Metabolic Disorders: MedlinePlus [NEW TOPIC PAGE]

Metabolic Disorders

URL of this page: http://www.nlm.nih.gov/medlineplus/metabolicdisorders.html

  

Metabolism is the process your body uses to get or make energy from the food you eat. Food is made up of proteins, carbohydrates and fats. Chemicals in your digestive system break the food parts down into sugars and acids, your body's fuel. Your body can use this fuel right away, or it can store the energy in your body tissues, such as your liver, muscles and body fat.

A metabolic disorder occurs when abnormal chemical reactions in your body disrupt this process. When this happens, you might have too much of some substances or too little of other ones that you need to stay healthy.

You can develop a metabolic disorder when some organs, such as your liver or pancreas, become diseased or do not function normally. Diabetes is an example.

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Metabolic Disorders: MedlinePlus

URL of this page: http://www.nlm.nih.gov/medlineplus/metabolicdisorders.html

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Metabolism is the process your body uses to get or make energy from the food you eat. Food is made up of proteins, carbohydrates and fats. Chemicals in your digestive system break the food parts down into sugars and acids, your body's fuel. Your body can use this fuel right away, or it can store the energy in your body tissues, such as your liver, muscles and body fat.
A metabolic disorder occurs when abnormal chemical reactions in your body disrupt this process. When this happens, you might have too much of some substances or too little of other ones that you need to stay healthy.
You can develop a metabolic disorder when some organs, such as your liver or pancreas, become diseased or do not function normally. Diabetes is an example.

 

 

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The top row in the table of contents box contains the following groups: Basics , Learn More , and Multimedia & Cool Tools .

 

For group Basics

• Overviews [http://www.nlm.nih.gov/medlineplus/metabolicdisorders.html#cat1]
• Diagnosis/Symptoms [http://www.nlm.nih.gov/medlineplus/metabolicdisorders.html#cat5]
• Prevention/Screening [http://www.nlm.nih.gov/medlineplus/metabolicdisorders.html#cat11]

For group Learn More

• Specific Conditions [http://www.nlm.nih.gov/medlineplus/metabolicdisorders.html#cat42]
• Related Issues [http://www.nlm.nih.gov/medlineplus/metabolicdisorders.html#cat47]

For group Multimedia & Cool Tools

• No links available

 

The bottom row in the table of contents box contains the following groups: Research , Reference Shelf , and For You .

 

For group Research

• Anatomy/Physiology [http://www.nlm.nih.gov/medlineplus/metabolicdisorders.html#cat9]
• Clinical Trials [http://www.nlm.nih.gov/medlineplus/metabolicdisorders.html#cat27]
• Genetics [http://www.nlm.nih.gov/medlineplus/metabolicdisorders.html#cat46]
• Research [http://www.nlm.nih.gov/medlineplus/metabolicdisorders.html#cat2]
• Journal Articles [http://www.nlm.nih.gov/medlineplus/metabolicdisorders.html#cat59]

For group Reference Shelf

• Dictionaries/Glossaries [http://www.nlm.nih.gov/medlineplus/metabolicdisorders.html#cat32]
• Directories [http://www.nlm.nih.gov/medlineplus/metabolicdisorders.html#cat41]
• Organizations [http://www.nlm.nih.gov/medlineplus/metabolicdisorders.html#cat29]
• Statistics [http://www.nlm.nih.gov/medlineplus/metabolicdisorders.html#cat22]

For group For You

• Seniors [http://www.nlm.nih.gov/medlineplus/metabolicdisorders.html#cat23]
• Patient Handouts [http://www.nlm.nih.gov/medlineplus/metabolicdisorders.html#cat69]

 

• Overviews

  • Overview of Hereditary Metabolic Disorders [http://www.merckmanuals.com/home/print/childrens_health_issues/hereditary_metabolic_disorders/overview_of_hereditary_metabolic_disorders.html](Merck & Co., Inc.)

• Diagnosis/Symptoms

  • Acidosis and Alkalosis [http://labtestsonline.org/understanding/conditions/acidosis-3.html](American Association for Clinical Chemistry)
  • Methylmalonic Acid [http://labtestsonline.org/understanding/analytes/mma/tab/test](American Association for Clinical Chemistry)
  • Urine Odor [http://www.mayoclinic.com/health/urine-odor/MY00378/METHOD=print&DSECTION=all](Mayo Foundation for Medical Education and Research)

• Prevention/Screening

  • MedlinePlus: Newborn Screening [http://www.nlm.nih.gov/medlineplus/newbornscreening.html](National Library of Medicine)
  • Also available in Spanish [http://www.nlm.nih.gov/medlineplus/spanish/newbornscreening.html]

• Specific Conditions

  • Acid Lipase Disease [http://www.ninds.nih.gov/disorders/acid_lipase/acid_lipase.htm](National Institute of Neurological Disorders and Stroke) - Short Summary
  • Barth Syndrome (BTHS) [http://www.ninds.nih.gov/disorders/barth/barth.htm](National Institute of Neurological Disorders and Stroke)
  • Central Pontine Myelinolysis [http://www.ninds.nih.gov/disorders/central_pontine/central_pontine_myelinolysis.htm](National Institute of Neurological Disorders and Stroke) - Short Summary
  • Facts about Metabolic Diseases of Muscle [http://www.mda.org/publications/PDFs/FactsAboutMetabolicDisease.pdf](Muscular Dystrophy Association) - PDF
  • Also available in Spanish [http://www.mda.org/espanol/esp-fa-metab.html]
  • Farber's Disease [http://www.ninds.nih.gov/disorders/Farbers/farbers.htm](National Institute of Neurological Disorders and Stroke) - Short Summary
  • G6PD Deficiency (Glucose-6-Phosphate Dehydrogenase) [http://kidshealth.org/parent/general/aches/g6pd.html](Nemours Foundation)
  • Gangliosidoses [http://www.ninds.nih.gov/disorders/gangliosidoses/Gangliosidoses.htm](National Institute of Neurological Disorders and Stroke) - Short Summary
  • Hunter Syndrome [http://www.mayoclinic.com/health/hunter-syndrome/DS00790/METHOD=print](Mayo Foundation for Medical Education and Research)
  • Hypophosphatasia [http://www.magicfoundation.org/www/docs/175.140](MAGIC Foundation)
  • Learning about Trimethylaminuria [http://www.genome.gov/11508983](National Human Genome Research Institute)
  • Lesch-Nyhan Syndrome [http://www.ninds.nih.gov/disorders/lesch_nyhan/lesch_nyhan.htm](National Institute of Neurological Disorders and Stroke) - Short Summary
  • Lipid Storage Diseases [http://www.ninds.nih.gov/disorders/lipid_storage_diseases/detail_lipid_storage_diseases.htm](National Institute of Neurological Disorders and Stroke)
  • Also available in Spanish [http://espanol.ninds.nih.gov/trastornos/enfermedades_por_almacenamiento_de_lipidos.htm]
  • Lipid Storage Diseases [http://www.ninds.nih.gov/disorders/lipid_storage_diseases/lipid_storage_diseases.htm](National Institute of Neurological Disorders and Stroke) - Short Summary
  • Metabolic Myopathies [http://www.rheumatology.org/practice/clinical/patients/diseases_and_conditions/metabolicmyopathies.asp](American College of Rheumatology)
  • Mitochondrial Myopathies [http://www.mda.org/publications/mitochondrial_myopathies.html](Muscular Dystrophy Association)
  • Also available in Spanish [http://www.mda.org/espanol/esp-fa-mito.html]
  • Mitochondrial Myopathies [http://www.ninds.nih.gov/disorders/mitochondrial_myopathy/mitochondrial_myopathy.htm](National Institute of Neurological Disorders and Stroke) - Short Summary
  • Mucolipidoses [http://www.ninds.nih.gov/disorders/mucolipidoses/detail_mucolipidoses.htm](National Institute of Neurological Disorders and Stroke)
  • Also available in Spanish [http://espanol.ninds.nih.gov/trastornos/mucolipidoses.htm]
  • Mucolipidoses [http://www.ninds.nih.gov/disorders/mucolipidoses/mucolipidoses.htm](National Institute of Neurological Disorders and Stroke) - Short Summary
  • Mucopolysaccharidoses [http://www.ninds.nih.gov/disorders/mucopolysaccharidoses/detail_mucopolysaccharidoses.htm](National Institute of Neurological Disorders and Stroke)
  • Also available in Spanish [http://espanol.ninds.nih.gov/trastornos/las_mucopolisacaridosis.htm]
  • Mucopolysaccharidoses [http://www.ninds.nih.gov/disorders/mucopolysaccharidoses/mucopolysaccharidoses.htm](National Institute of Neurological Disorders and Stroke) - Short Summary
  • Pompe Disease [http://www.ninds.nih.gov/disorders/pompe/pompe.htm](National Institute of Neurological Disorders and Stroke)
  • Type I Glycogen Storage Disease [http://www.liverfoundation.org/abouttheliver/info/gsdi/](American Liver Foundation)
  • Understanding Pompe Disease [http://www.niams.nih.gov/Health_Info/Pompe_Disease/default.asp](National Institute of Arthritis and Musculoskeletal and Skin Diseases)
  • What Is a Urea Cycle Disorder? [http://www.nucdf.org/ucd.htm](National Urea Cycle Disorders Foundation)
  • What Is Hyperoxaluria and Oxalosis? [http://www.ohf.org/about_disease.html](Oxalosis and Hyperoxaluria Foundation)
  • Return to top [http://www.nlm.nih.gov/medlineplus/metabolicdisorders.html#skip]

• Related Issues

  • Unexplained Weight Loss [http://www.mayoclinic.com/health/unexplained-weight-loss/MY00713/METHOD=print](Mayo Foundation for Medical Education and Research)
  • Return to top [http://www.nlm.nih.gov/medlineplus/metabolicdisorders.html#skip]

• Anatomy/Physiology

  • Metabolism [http://kidshealth.org/parent/general/body_basics/metabolism.html](Nemours Foundation)
  • Also available in Spanish [http://kidshealth.org/parent/en_espanol/general/metabolism_esp.html]
  • Return to top [http://www.nlm.nih.gov/medlineplus/metabolicdisorders.html#skip]

• Clinical Trials

  • ClinicalTrials.gov: Metabolic Diseases [http://clinicaltrials.gov/search/open/condition=%22Metabolic+Diseases%22](National Institutes of Health)
  • ClinicalTrials.gov: Mucolipidoses [http://clinicaltrials.gov/search/open/condition=%22Mucolipidoses%22](National Institutes of Health)
  • ClinicalTrials.gov: Mucopolysaccharidoses [http://clinicaltrials.gov/search/open/condition=%22Mucopolysaccharidoses%22](National Institutes of Health)
  • Return to top [http://www.nlm.nih.gov/medlineplus/metabolicdisorders.html#skip]

• Genetics

  • Genetics Home Reference: 17β-hydroxysteroid dehydrogenase type 10 deficiency [http://ghr.nlm.nih.gov/condition/17beta-hydroxysteroid-dehydrogenase-type-10-deficiency](National Library of Medicine)
  • Genetics Home Reference: 2-hydroxyglutaric aciduria [http://ghr.nlm.nih.gov/condition/2-hydroxyglutaric-aciduria](National Library of Medicine)
  • Genetics Home Reference: 2-methylbutyryl-CoA dehydrogenase deficiency [http://ghr.nlm.nih.gov/condition/2-methylbutyryl-coa-dehydrogenase-deficiency](National Library of Medicine)
  • Genetics Home Reference: 3-hydroxy-3-methylglutaryl-CoA lyase deficiency [http://ghr.nlm.nih.gov/condition/3-hydroxy-3-methylglutaryl-coa-lyase-deficiency](National Library of Medicine)
  • Genetics Home Reference: 3-hydroxyacyl-CoA dehydrogenase deficiency [http://ghr.nlm.nih.gov/condition/3-hydroxyacyl-coa-dehydrogenase-deficiency](National Library of Medicine)
  • Genetics Home Reference: 3-methylcrotonyl-CoA carboxylase deficiency [http://ghr.nlm.nih.gov/condition/3-methylcrotonyl-coa-carboxylase-deficiency](National Library of Medicine)
  • Genetics Home Reference: 3-methylglutaconic aciduria [http://ghr.nlm.nih.gov/condition/3-methylglutaconic-aciduria](National Library of Medicine)
  • Genetics Home Reference: Abetalipoproteinemia [http://ghr.nlm.nih.gov/condition/abetalipoproteinemia](National Library of Medicine)
  • Genetics Home Reference: Adenosine deaminase deficiency [http://ghr.nlm.nih.gov/condition/adenosine-deaminase-deficiency](National Library of Medicine)
  • Genetics Home Reference: Alkaptonuria [http://ghr.nlm.nih.gov/condition/alkaptonuria](National Library of Medicine)
  • Genetics Home Reference: Alpha-mannosidosis [http://ghr.nlm.nih.gov/condition/alpha-mannosidosis](National Library of Medicine)
  • Genetics Home Reference: Arginase deficiency [http://ghr.nlm.nih.gov/condition/arginase-deficiency](National Library of Medicine)
  • Genetics Home Reference: Arginine:glycine amidinotransferase deficiency [http://ghr.nlm.nih.gov/condition/arginineglycine-amidinotransferase-deficiency](National Library of Medicine)
  • Genetics Home Reference: Argininosuccinic aciduria [http://ghr.nlm.nih.gov/condition/argininosuccinic-aciduria](National Library of Medicine)
  • Genetics Home Reference: Aspartylglucosaminuria [http://ghr.nlm.nih.gov/condition/aspartylglucosaminuria](National Library of Medicine)
  • Genetics Home Reference: Beta-ketothiolase deficiency [http://ghr.nlm.nih.gov/condition/beta-ketothiolase-deficiency](National Library of Medicine)
  • Genetics Home Reference: Beta-mannosidosis [http://ghr.nlm.nih.gov/condition/beta-mannosidosis](National Library of Medicine)
  • Genetics Home Reference: Biotinidase deficiency [http://ghr.nlm.nih.gov/condition/biotinidase-deficiency](National Library of Medicine)
  • Genetics Home Reference: Carbamoyl phosphate synthetase I deficiency [http://ghr.nlm.nih.gov/condition/carbamoyl-phosphate-synthetase-i-deficiency](National Library of Medicine)
  • Genetics Home Reference: Carnitine palmitoyltransferase I deficiency [http://ghr.nlm.nih.gov/condition/carnitine-palmitoyltransferase-i-deficiency](National Library of Medicine)
  • Genetics Home Reference: Carnitine palmitoyltransferase II deficiency [http://ghr.nlm.nih.gov/condition/carnitine-palmitoyltransferase-ii-deficiency](National Library of Medicine)
  • Genetics Home Reference: Carnitine-acylcarnitine translocase deficiency [http://ghr.nlm.nih.gov/condition/carnitine-acylcarnitine-translocase-deficiency](National Library of Medicine)
  • Genetics Home Reference: Cerebrotendinous xanthomatosis [http://ghr.nlm.nih.gov/condition/cerebrotendinous-xanthomatosis](National Library of Medicine)
  • Genetics Home Reference: Chanarin-Dorfman syndrome [http://ghr.nlm.nih.gov/condition/chanarin-dorfman-syndrome](National Library of Medicine)
  • Genetics Home Reference: Chylomicron retention disease [http://ghr.nlm.nih.gov/condition/chylomicron-retention-disease](National Library of Medicine)
  • Genetics Home Reference: Citrullinemia [http://ghr.nlm.nih.gov/condition/citrullinemia](National Library of Medicine)
  • Genetics Home Reference: Congenital disorder of glycosylation type Ia [http://ghr.nlm.nih.gov/condition/congenital-disorder-of-glycosylation-type-ia](National Library of Medicine)
  • Genetics Home Reference: Cytochrome P450 oxidoreductase deficiency [http://ghr.nlm.nih.gov/condition/cytochrome-p450-oxidoreductase-deficiency](National Library of Medicine)
  • Genetics Home Reference: Deoxyguanosine kinase deficiency [http://ghr.nlm.nih.gov/condition/deoxyguanosine-kinase-deficiency](National Library of Medicine)
  • Genetics Home Reference: Dihydropyrimidine dehydrogenase deficiency [http://ghr.nlm.nih.gov/condition/dihydropyrimidine-dehydrogenase-deficiency](National Library of Medicine)
  • Genetics Home Reference: Ethylmalonic encephalopathy [http://ghr.nlm.nih.gov/condition/ethylmalonic-encephalopathy](National Library of Medicine)
  • Genetics Home Reference: Fabry disease [http://ghr.nlm.nih.gov/condition/fabry-disease](National Library of Medicine)
  • Genetics Home Reference: Familial hyperinsulinism [http://ghr.nlm.nih.gov/condition/familial-hyperinsulinism](National Library of Medicine)
  • Genetics Home Reference: Familial lipoprotein lipase deficiency [http://ghr.nlm.nih.gov/condition/familial-lipoprotein-lipase-deficiency](National Library of Medicine)
  • Genetics Home Reference: Farber lipogranulomatosis [http://ghr.nlm.nih.gov/condition/farber-lipogranulomatosis](National Library of Medicine)
  • Genetics Home Reference: Fucosidosis [http://ghr.nlm.nih.gov/condition/fucosidosis](National Library of Medicine)
  • Genetics Home Reference: Fumarase deficiency [http://ghr.nlm.nih.gov/condition/fumarase-deficiency](National Library of Medicine)
  • Genetics Home Reference: Galactosemia [http://ghr.nlm.nih.gov/condition/galactosemia](National Library of Medicine)
  • Genetics Home Reference: Galactosialidosis [http://ghr.nlm.nih.gov/condition/galactosialidosis](National Library of Medicine)
  • Genetics Home Reference: Glucose-6-phosphate dehydrogenase deficiency [http://ghr.nlm.nih.gov/condition/glucose-6-phosphate-dehydrogenase-deficiency](National Library of Medicine)
  • Genetics Home Reference: GLUT1 deficiency syndrome [http://ghr.nlm.nih.gov/condition/glut1-deficiency-syndrome](National Library of Medicine)
  • Genetics Home Reference: Glutamate formiminotransferase deficiency [http://ghr.nlm.nih.gov/condition/glutamate-formiminotransferase-deficiency](National Library of Medicine)
  • Genetics Home Reference: Glutaric acidemia type II [http://ghr.nlm.nih.gov/condition/glutaric-acidemia-type-ii](National Library of Medicine)
  • Genetics Home Reference: Glutaric acidemia type I [http://ghr.nlm.nih.gov/condition/glutaric-acidemia-type-i](National Library of Medicine)
  • Genetics Home Reference: Glutathione synthetase deficiency [http://ghr.nlm.nih.gov/condition/glutathione-synthetase-deficiency](National Library of Medicine)
  • Genetics Home Reference: Glycine encephalopathy [http://ghr.nlm.nih.gov/condition/glycine-encephalopathy](National Library of Medicine)
  • Genetics Home Reference: Glycogen storage disease type I [http://ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-i](National Library of Medicine)
  • Genetics Home Reference: Glycogen storage disease type V [http://ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-v](National Library of Medicine)
  • Genetics Home Reference: GM1 gangliosidosis [http://ghr.nlm.nih.gov/condition/gm1-gangliosidosis](National Library of Medicine)
  • Genetics Home Reference: Guanidinoacetate methyltransferase deficiency [http://ghr.nlm.nih.gov/condition/guanidinoacetate-methyltransferase-deficiency](National Library of Medicine)
  • Genetics Home Reference: Hereditary fructose intolerance [http://ghr.nlm.nih.gov/condition/hereditary-fructose-intolerance](National Library of Medicine)
  • Genetics Home Reference: Histidinemia [http://ghr.nlm.nih.gov/condition/histidinemia](National Library of Medicine)
  • Genetics Home Reference: Holocarboxylase synthetase deficiency [http://ghr.nlm.nih.gov/condition/holocarboxylase-synthetase-deficiency](National Library of Medicine)
  • Genetics Home Reference: Homocystinuria [http://ghr.nlm.nih.gov/condition/homocystinuria](National Library of Medicine)
  • Genetics Home Reference: Hutchinson-Gilford progeria syndrome [http://ghr.nlm.nih.gov/condition/hutchinson-gilford-progeria-syndrome](National Library of Medicine)
  • Genetics Home Reference: Hypercholesterolemia [http://ghr.nlm.nih.gov/condition/hypercholesterolemia](National Library of Medicine)
  • Genetics Home Reference: Hyperlysinemia [http://ghr.nlm.nih.gov/condition/hyperlysinemia](National Library of Medicine)
  • Genetics Home Reference: Hypermethioninemia [http://ghr.nlm.nih.gov/condition/hypermethioninemia](National Library of Medicine)
  • Genetics Home Reference: Hyperprolinemia [http://ghr.nlm.nih.gov/condition/hyperprolinemia](National Library of Medicine)
  • Genetics Home Reference: Hypophosphatasia [http://ghr.nlm.nih.gov/condition/hypophosphatasia](National Library of Medicine)
  • Genetics Home Reference: Isobutyryl-CoA dehydrogenase deficiency [http://ghr.nlm.nih.gov/condition/isobutyryl-coa-dehydrogenase-deficiency](National Library of Medicine)
  • Genetics Home Reference: Isovaleric acidemia [http://ghr.nlm.nih.gov/condition/isovaleric-acidemia](National Library of Medicine)
  • Genetics Home Reference: Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency [http://ghr.nlm.nih.gov/condition/long-chain-3-hydroxyacyl-coa-dehydrogenase-deficiency](National Library of Medicine)
  • Genetics Home Reference: Lysinuric protein intolerance [http://ghr.nlm.nih.gov/condition/lysinuric-protein-intolerance](National Library of Medicine)
  • Genetics Home Reference: Malonyl-CoA decarboxylase deficiency [http://ghr.nlm.nih.gov/condition/malonyl-coa-decarboxylase-deficiency](National Library of Medicine)
  • Genetics Home Reference: Maple syrup urine disease [http://ghr.nlm.nih.gov/condition/maple-syrup-urine-disease](National Library of Medicine)
  • Genetics Home Reference: Medium-chain acyl-CoA dehydrogenase deficiency [http://ghr.nlm.nih.gov/condition/medium-chain-acyl-coa-dehydrogenase-deficiency](National Library of Medicine)
  • Genetics Home Reference: Methylmalonic acidemia [http://ghr.nlm.nih.gov/condition/methylmalonic-acidemia](National Library of Medicine)
  • Genetics Home Reference: Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes [http://ghr.nlm.nih.gov/condition/mitochondrial-encephalomyopathy-lactic-acidosis-and-stroke-like-episodes](National Library of Medicine)
  • Genetics Home Reference: Mitochondrial neurogastrointestinal encephalopathy disease [http://ghr.nlm.nih.gov/condition/mitochondrial-neurogastrointestinal-encephalopathy-disease](National Library of Medicine)
  • Genetics Home Reference: Mitochondrial trifunctional protein deficiency [http://ghr.nlm.nih.gov/condition/mitochondrial-trifunctional-protein-deficiency](National Library of Medicine)
  • Genetics Home Reference: Mucolipidosis II alpha/beta [http://ghr.nlm.nih.gov/condition/mucolipidosis-ii-alpha-beta](National Library of Medicine)
  • Genetics Home Reference: Mucolipidosis III alpha/beta [http://ghr.nlm.nih.gov/condition/mucolipidosis-iii-alpha-beta](National Library of Medicine)
  • Genetics Home Reference: Mucolipidosis III gamma [http://ghr.nlm.nih.gov/condition/mucolipidosis-iii-gamma](National Library of Medicine)
  • Genetics Home Reference: Mucolipidosis type IV [http://ghr.nlm.nih.gov/condition/mucolipidosis-type-iv](National Library of Medicine)
  • Genetics Home Reference: Mucopolysaccharidosis type III [http://ghr.nlm.nih.gov/condition/mucopolysaccharidosis-type-iii](National Library of Medicine)
  • Genetics Home Reference: Mucopolysaccharidosis type II [http://ghr.nlm.nih.gov/condition/mucopolysaccharidosis-type-ii](National Library of Medicine)
  • Genetics Home Reference: Mucopolysaccharidosis type I [http://ghr.nlm.nih.gov/condition/mucopolysaccharidosis-type-i](National Library of Medicine)
  • Genetics Home Reference: Mucopolysaccharidosis type IV [http://ghr.nlm.nih.gov/condition/mucopolysaccharidosis-type-iv](National Library of Medicine)
  • Genetics Home Reference: Mucopolysaccharidosis type VII [http://ghr.nlm.nih.gov/condition/mucopolysaccharidosis-type-vii](National Library of Medicine)
  • Genetics Home Reference: Mucopolysaccharidosis type VI [http://ghr.nlm.nih.gov/condition/mucopolysaccharidosis-type-vi](National Library of Medicine)
  • Genetics Home Reference: Myoclonic epilepsy with ragged-red fibers [http://ghr.nlm.nih.gov/condition/myoclonic-epilepsy-with-ragged-red-fibers](National Library of Medicine)
  • Genetics Home Reference: N-acetylglutamate synthase deficiency [http://ghr.nlm.nih.gov/condition/n-acetylglutamate-synthase-deficiency](National Library of Medicine)
  • Genetics Home Reference: Neutral lipid storage disease with myopathy [http://ghr.nlm.nih.gov/condition/neutral-lipid-storage-disease-with-myopathy](National Library of Medicine)
  • Genetics Home Reference: Niemann-Pick disease [http://ghr.nlm.nih.gov/condition/niemann-pick-disease](National Library of Medicine)
  • Genetics Home Reference: Ornithine transcarbamylase deficiency [http://ghr.nlm.nih.gov/condition/ornithine-transcarbamylase-deficiency](National Library of Medicine)
  • Genetics Home Reference: Ornithine translocase deficiency [http://ghr.nlm.nih.gov/condition/ornithine-translocase-deficiency](National Library of Medicine)
  • Genetics Home Reference: Phosphoglycerate kinase deficiency [http://ghr.nlm.nih.gov/condition/phosphoglycerate-kinase-deficiency](National Library of Medicine)
  • Genetics Home Reference: Phosphoglycerate mutase deficiency [http://ghr.nlm.nih.gov/condition/phosphoglycerate-mutase-deficiency](National Library of Medicine)
  • Genetics Home Reference: Phosphoribosylpyrophosphate synthetase superactivity [http://ghr.nlm.nih.gov/condition/phosphoribosylpyrophosphate-synthetase-superactivity](National Library of Medicine)
  • Genetics Home Reference: Pompe disease [http://ghr.nlm.nih.gov/condition/pompe-disease](National Library of Medicine)
  • Genetics Home Reference: Primary carnitine deficiency [http://ghr.nlm.nih.gov/condition/primary-carnitine-deficiency](National Library of Medicine)
  • Genetics Home Reference: Primary hyperoxaluria [http://ghr.nlm.nih.gov/condition/primary-hyperoxaluria](National Library of Medicine)
  • Genetics Home Reference: Prolidase deficiency [http://ghr.nlm.nih.gov/condition/prolidase-deficiency](National Library of Medicine)
  • Genetics Home Reference: Propionic acidemia [http://ghr.nlm.nih.gov/condition/propionic-acidemia](National Library of Medicine)
  • Genetics Home Reference: Pyruvate carboxylase deficiency [http://ghr.nlm.nih.gov/condition/pyruvate-carboxylase-deficiency](National Library of Medicine)
  • Genetics Home Reference: Rhizomelic chondrodysplasia punctata [http://ghr.nlm.nih.gov/condition/rhizomelic-chondrodysplasia-punctata](National Library of Medicine)
  • Genetics Home Reference: Schindler disease [http://ghr.nlm.nih.gov/condition/schindler-disease](National Library of Medicine)
  • Genetics Home Reference: Short-chain acyl-CoA dehydrogenase deficiency [http://ghr.nlm.nih.gov/condition/short-chain-acyl-coa-dehydrogenase-deficiency](National Library of Medicine)
  • Genetics Home Reference: Sialic acid storage disease [http://ghr.nlm.nih.gov/condition/sialic-acid-storage-disease](National Library of Medicine)
  • Genetics Home Reference: Sialidosis [http://ghr.nlm.nih.gov/condition/sialidosis](National Library of Medicine)
  • Genetics Home Reference: Sialuria [http://ghr.nlm.nih.gov/condition/sialuria](National Library of Medicine)
  • Genetics Home Reference: Succinate-CoA ligase deficiency [http://ghr.nlm.nih.gov/condition/succinate-coa-ligase-deficiency](National Library of Medicine)
  • Genetics Home Reference: Succinyl-CoA:3-ketoacid CoA transferase deficiency [http://ghr.nlm.nih.gov/condition/succinyl-coa3-ketoacid-coa-transferase-deficiency](National Library of Medicine)
  • Genetics Home Reference: Trichothiodystrophy [http://ghr.nlm.nih.gov/condition/trichothiodystrophy](National Library of Medicine)
  • Genetics Home Reference: Trimethylaminuria [http://ghr.nlm.nih.gov/condition/trimethylaminuria](National Library of Medicine)
  • Genetics Home Reference: Tyrosinemia [http://ghr.nlm.nih.gov/condition/tyrosinemia](National Library of Medicine)
  • Genetics Home Reference: Very long-chain acyl-CoA dehydrogenase deficiency [http://ghr.nlm.nih.gov/condition/very-long-chain-acyl-coa-dehydrogenase-deficiency](National Library of Medicine)
  • Genetics Home Reference: Wolman disease [http://ghr.nlm.nih.gov/condition/wolman-disease](National Library of Medicine)
  • Genetics Home Reference: X-linked creatine deficiency [http://ghr.nlm.nih.gov/condition/x-linked-creatine-deficiency](National Library of Medicine)
  • Return to top [http://www.nlm.nih.gov/medlineplus/metabolicdisorders.html#skip]

• Research

  • Birth Defects and Developmental Disabilities [http://www.nichd.nih.gov/womenshealth/research/pregbirth/birthdefects.cfm](National Institute of Child Health and Human Development)
  • Vaccines Are Safe for Children with Urea Cycle Disorders [http://www.nichd.nih.gov/news/releases/060711-urea-cycle-disorders.cfm](National Institute of Child Health and Human Development)
  • Return to top [http://www.nlm.nih.gov/medlineplus/metabolicdisorders.html#skip]

• Journal Articles

  References and abstracts from MEDLINE/PubMed (National Library of Medicine)
  • Article: Physical training for McArdle disease. [http://www.ncbi.nlm.nih.gov/pubmed/22161416?tool=MedlinePlus]
  • Article: Idiopathic Fanconi's syndrome with nephrogenic diabetes insipidus in a child... [http://www.ncbi.nlm.nih.gov/pubmed/22145469?tool=MedlinePlus]
  • Article: Copper and liver disease. [http://www.ncbi.nlm.nih.gov/pubmed/22139599?tool=MedlinePlus]
  • Metabolic Disorders -- see more articles [http://www.ncbi.nlm.nih.gov/pubmed?term=metabolism,inborn+errors[majr]+NOT+(phenylketonurias[mh]+OR+hyperbilirubinemia[mh]+OR+lactose+intolerance[mh]+OR+lipid+metabolism,inborn+errors[mh]+OR+hemochromatosis[mh]+OR+porphyrias[mh]+OR+gout[mh]+OR+amyloidosis,familial[mh])+AND+english[la]+AND+humans[mh]+AND+(review[pt]+OR+guideline[pt]+OR+clinical+trial[pt]+OR+jsubsetk[text]+OR+patient+education+handout[pt]+OR+jsubsetaim[text]+OR+jsubsetn[text])+NOT+(letter[pt]+OR+editorial[pt])+AND+%22last+1+Year%22[edat]&tool=MedlinePlus]
  • Return to top [http://www.nlm.nih.gov/medlineplus/metabolicdisorders.html#skip]

• Dictionaries/Glossaries

  • Glossary [http://www.umdf.org/site/c.otJVJ7MMIqE/b.5692903/k.D54E/Glossary.htm](United Mitochondrial Disease Foundation)
  • Return to top [http://www.nlm.nih.gov/medlineplus/metabolicdisorders.html#skip]

• Directories

  • Directory of Endocrine and Metabolic Diseases Organizations [http://endocrine.niddk.nih.gov/resources/organizations.aspx](National Institute of Diabetes and Digestive and Kidney Diseases)
  • Genetic and Rare Diseases Information Center [http://rarediseases.info.nih.gov/GARD/Default.aspx?PageID=4](Office of Rare Diseases)
  • Genetic Testing Laboratory Directory [http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab?db=GeneTests](University of Washington)
  • Genetics Clinic Directory Search [http://www.ncbi.nlm.nih.gov/sites/GeneTests/clinic?db=GeneTests](University of Washington)
  • Return to top [http://www.nlm.nih.gov/medlineplus/metabolicdisorders.html#skip]

• Organizations

  • National Institute of Diabetes and Digestive and Kidney Diseases [http://www2.niddk.nih.gov/]
  • National MPS Society (Mucopolysaccharidoses) [http://www.mpssociety.org/](National MPS Society)
  • Oxalosis and Hyperoxaluria Foundation [http://www.ohf.org/]
  • United Mitochondrial Disease Foundation [http://www.umdf.org/]
  • Return to top [http://www.nlm.nih.gov/medlineplus/metabolicdisorders.html#skip]

• Statistics

  • Endocrine and Metabolic Disorders [http://mchb.hrsa.gov/whusa09/hstat/hi/pages/217emd.html](Maternal and Child Health Bureau)
  • Return to top [http://www.nlm.nih.gov/medlineplus/metabolicdisorders.html#skip]

• Seniors

  • Low Blood Sodium in Older Adults: A Concern? [http://www.mayoclinic.com/health/low-blood-sodium/AN00621/METHOD=print](Mayo Foundation for Medical Education and Research)
  • Return to top [http://www.nlm.nih.gov/medlineplus/metabolicdisorders.html#skip]

• Patient Handouts

  • Acidosis [http://www.nlm.nih.gov/medlineplus/ency/article/001181.htm]
  • Also available in Spanish [http://www.nlm.nih.gov/medlineplus/spanish/ency/article/001181.htm]
  • Alkalosis [http://www.nlm.nih.gov/medlineplus/ency/article/001183.htm]
  • Also available in Spanish [http://www.nlm.nih.gov/medlineplus/spanish/ency/article/001183.htm]
  • Metabolic acidosis [http://www.nlm.nih.gov/medlineplus/ency/article/000335.htm]
  • Also available in Spanish [http://www.nlm.nih.gov/medlineplus/spanish/ency/article/000335.htm]
  • Metabolic neuropathies [http://www.nlm.nih.gov/medlineplus/ency/article/001161.htm]
  • Also available in Spanish [http://www.nlm.nih.gov/medlineplus/spanish/ency/article/001161.htm]
  • Pseudohypoparathyroidism [http://www.nlm.nih.gov/medlineplus/ency/article/000364.htm]
  • Also available in Spanish [http://www.nlm.nih.gov/medlineplus/spanish/ency/article/000364.htm]
  • Sanfilippo syndrome [http://www.nlm.nih.gov/medlineplus/ency/article/001210.htm]
  • Also available in Spanish [http://www.nlm.nih.gov/medlineplus/spanish/ency/article/001210.htm]
  • Return to top [http://www.nlm.nih.gov/medlineplus/metabolicdisorders.html#skip]

• You may also be interested in these related encyclopedia pages:

  • Acid mucopolysaccharides [http://www.nlm.nih.gov/medlineplus/ency/article/003368.htm]
  • Acidosis [http://www.nlm.nih.gov/medlineplus/ency/article/001181.htm]
  • Alkalosis [http://www.nlm.nih.gov/medlineplus/ency/article/001183.htm]
  • Alkaptonuria [http://www.nlm.nih.gov/medlineplus/ency/article/001200.htm]
  • Bassen-Kornzweig syndrome [http://www.nlm.nih.gov/medlineplus/ency/article/001666.htm]
  • Blood gases [http://www.nlm.nih.gov/medlineplus/ency/article/003855.htm]
  • Chylomicronemia syndrome [http://www.nlm.nih.gov/medlineplus/ency/article/000405.htm]
  • Crigler-Najjar syndrome [http://www.nlm.nih.gov/medlineplus/ency/article/001127.htm]
  • Dementia due to metabolic causes [http://www.nlm.nih.gov/medlineplus/ency/article/000683.htm]
  • Familial lipoprotein lipase deficiency [http://www.nlm.nih.gov/medlineplus/ency/article/000408.htm]
  • Galactose-1-phospate uridyltransferase [http://www.nlm.nih.gov/medlineplus/ency/article/003636.htm]
  • Galactosemia [http://www.nlm.nih.gov/medlineplus/ency/article/000366.htm]
  • Glucose-6-phosphate dehydrogenase [http://www.nlm.nih.gov/medlineplus/ency/article/003671.htm]
  • Glucose-6-phosphate dehydrogenase deficiency [http://www.nlm.nih.gov/medlineplus/ency/article/000528.htm]
  • Hartnup disorder [http://www.nlm.nih.gov/medlineplus/ency/article/001201.htm]
  • Hereditary fructose intolerance [http://www.nlm.nih.gov/medlineplus/ency/article/000359.htm]
  • Hereditary urea cycle abnormality [http://www.nlm.nih.gov/medlineplus/ency/article/000372.htm]
  • Homocystinuria [http://www.nlm.nih.gov/medlineplus/ency/article/001199.htm]
  • Hunter syndrome [http://www.nlm.nih.gov/medlineplus/ency/article/001203.htm]
  • Hurler syndrome [http://www.nlm.nih.gov/medlineplus/ency/article/001204.htm]
  • Inborn errors of metabolism [http://www.nlm.nih.gov/medlineplus/ency/article/002438.htm]
  • Lactic acid test [http://www.nlm.nih.gov/medlineplus/ency/article/003507.htm]
  • Lesch-Nyhan syndrome [http://www.nlm.nih.gov/medlineplus/ency/article/001655.htm]
  • McArdle syndrome [http://www.nlm.nih.gov/medlineplus/ency/article/000329.htm]
  • Menkes syndrome [http://www.nlm.nih.gov/medlineplus/ency/article/001160.htm]
  • Metabolic acidosis [http://www.nlm.nih.gov/medlineplus/ency/article/000335.htm]
  • Metabolic neuropathies [http://www.nlm.nih.gov/medlineplus/ency/article/001161.htm]
  • Methylmalonic acid test [http://www.nlm.nih.gov/medlineplus/ency/article/003565.htm]
  • Methylmalonic acidemia [http://www.nlm.nih.gov/medlineplus/ency/article/001162.htm]
  • Morquio syndrome [http://www.nlm.nih.gov/medlineplus/ency/article/001206.htm]
  • Niemann-Pick disease [http://www.nlm.nih.gov/medlineplus/ency/article/001207.htm]
  • Pseudohypoparathyroidism [http://www.nlm.nih.gov/medlineplus/ency/article/000364.htm]
  • Sanfilippo syndrome [http://www.nlm.nih.gov/medlineplus/ency/article/001210.htm]
  • Scheie syndrome [http://www.nlm.nih.gov/medlineplus/ency/article/001246.htm]
  • Senile cerebral amyloid angiopathy [http://www.nlm.nih.gov/medlineplus/ency/article/000719.htm]
  • Transient familial hyperbilirubinemia [http://www.nlm.nih.gov/medlineplus/ency/article/001196.htm]
  • Urine odor [http://www.nlm.nih.gov/medlineplus/ency/article/007298.htm]
  • Von Gierke disease [http://www.nlm.nih.gov/medlineplus/ency/article/000338.htm]
  • Xanthoma [http://www.nlm.nih.gov/medlineplus/ency/article/001447.htm]

• You may also be interested in these related MedlinePlus topics:

  • Amyloidosis [http://www.nlm.nih.gov/medlineplus/amyloidosis.html]
  • Gaucher's Disease [http://www.nlm.nih.gov/medlineplus/gauchersdisease.html]
  • Genetic Brain Disorders [http://www.nlm.nih.gov/medlineplus/geneticbraindisorders.html]
  • Hemochromatosis [http://www.nlm.nih.gov/medlineplus/hemochromatosis.html]
  • Malabsorption Syndromes [http://www.nlm.nih.gov/medlineplus/malabsorptionsyndromes.html]
  • Phenylketonuria [http://www.nlm.nih.gov/medlineplus/phenylketonuria.html]
  • Porphyria [http://www.nlm.nih.gov/medlineplus/porphyria.html]
  • Rickets [http://www.nlm.nih.gov/medlineplus/rickets.html]
  • Wilson Disease [http://www.nlm.nih.gov/medlineplus/wilsondisease.html]
  • Genetics/Birth Defects [http://www.nlm.nih.gov/medlineplus/geneticsbirthdefects.html]
  • Metabolic Problems [http://www.nlm.nih.gov/medlineplus/metabolicproblems.html]
• The primary NIH organization for research on Metabolic Disorders is the National Institute of Diabetes and Digestive and Kidney Diseases [http://www.niddk.nih.gov/]

MEDICAL ENCYCLOPEDIA  

• Acid mucopolysaccharides
• Acidosis
• Alkalosis
• Alkaptonuria
• Bassen-Kornzweig syndrome
• Blood gases
• Chylomicronemia syndrome
• Crigler-Najjar syndrome
• Dementia due to metabolic causes
• Familial lipoprotein lipase deficiency
• 
  

  Galactose-1-phospate uridyltransferase Galactosemia Glucose-6-phosphate dehydrogenase Glucose-6-phosphate dehydrogenase deficiency Hartnup disorder Hereditary fructose intolerance Hereditary urea cycle abnormality Homocystinuria Hunter syndrome Hurler syndrome Inborn errors of metabolism Lactic acid test Lesch-Nyhan syndrome McArdle syndrome Menkes syndrome Metabolic acidosis Metabolic neuropathies Methylmalonic acid test Methylmalonic acidemia Morquio syndrome Niemann-Pick disease Pseudohypoparathyroidism Sanfilippo syndrome Scheie syndrome Senile cerebral amyloid angiopathy Transient familial hyperbilirubinemia Urine odor Von Gierke disease Xanthoma

  

  

Related Topics

• Amyloidosis
• Gaucher's Disease
• Genetic Brain Disorders
• Hemochromatosis
• Malabsorption Syndromes
• Phenylketonuria
• Porphyria
• Rickets
• Wilson Disease
• Genetics/Birth Defects
• Metabolic Problems

National Institutes of Health

• The primary NIH organization for research on Metabolic Disorders is the National Institute of Diabetes and Digestive and Kidney Diseases

Languages

• Italian (italiano)
• Spanish (español)