Amino Acid Metabolism Disorders: MedlinePlus [NEW TOPIC PAGE]

Amino Acid Metabolism Disorders: MedlinePlus

Amino Acid Metabolism Disorders

New Topic Page: Amino Acid Metabolism Disorders

08/24/2016 05:26 PM EDT

Visit the new MedlinePlus Health Topic page on Amino Acid Metabolism Disorders.

Metabolism is the process your body uses to make energy from the food you eat. If you have a metabolic disorder, something goes wrong with this process. One group of these disorders is amino acid metabolism disorders...

MEDICAL ENCYCLOPEDIA  

• Alkaptonuria
• Amino acids
• Hartnup disorder
• Methylmalonic acid blood test
• Methylmalonic acidemia
• Plasma amino acids

Related Health Topics

• Carbohydrate Metabolism Disorders
• Dietary Proteins
• Lipid Metabolism Disorders
• Metabolic Disorders

Disclaimers

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Summary

Metabolism is the process your body uses to make energy from the food you eat. Food is made up of proteins, carbohydrates, and fats. Your digestive system breaks 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. If you have a metabolic disorder, something goes wrong with this process.

One group of these disorders is amino acid metabolism disorders. They include phenylketonuria(PKU) and maple syrup urine disease. Amino acids are "building blocks" that join together to form proteins. If you have one of these disorders, your body may have trouble breaking down certain amino acids. Or there may be a problem getting the amino acids into your cells. These problems cause a buildup of harmful substances in your body. That can lead to serious, sometimes life-threatening, health problems.

These disorders are usually inherited. A baby who is born with one may not have any symptoms right away. Because the disorders can be so serious, early diagnosis and treatment are critical. Newborn babies get screened for many of them, using blood tests.

Treatments may include special diets, medicines, and supplements. Some babies may also need additional treatments if there are complications.

Start Here

• Amino Acid Metabolism Disorders (March of Dimes Birth Defects Foundation)
• Disorders of Amino Acid Metabolism (Merck & Co., Inc.)

Diagnosis and Tests

• MedlinePlus: Newborn Screening  (National Library of Medicine)Also in Spanish
• Methylmalonic Acid Test (American Association for Clinical Chemistry)

Treatments and Therapies

• Treatment of Amino Acid Metabolism Disorders (March of Dimes Birth Defects Foundation)

Specifics

• Hyperoxaluria (Oxalosis and Hyperoxaluria Foundation)

Genetics

• Genetics Home Reference: 17β-hydroxysteroid dehydrogenase type 10 deficiency  (National Library of Medicine)
• Genetics Home Reference: 2-methylbutyryl-CoA dehydrogenase deficiency  (National Library of Medicine)
• Genetics Home Reference: 3-hydroxy-3-methylglutaryl-CoA lyase deficiency  (National Library of Medicine)
• Genetics Home Reference: 3-methylcrotonyl-CoA carboxylase deficiency  (National Library of Medicine)
• Genetics Home Reference: 3-methylglutaconyl-CoA hydratase deficiency  (National Library of Medicine)
• Genetics Home Reference: alkaptonuria  (National Library of Medicine)
• Genetics Home Reference: aminoacylase 1 deficiency  (National Library of Medicine)
• Genetics Home Reference: arginase deficiency  (National Library of Medicine)
• Genetics Home Reference: arginine:glycine amidinotransferase deficiency  (National Library of Medicine)
• Genetics Home Reference: argininosuccinic aciduria  (National Library of Medicine)
• Genetics Home Reference: beta-ketothiolase deficiency  (National Library of Medicine)
• Genetics Home Reference: dihydrolipoamide dehydrogenase deficiency  (National Library of Medicine)
• Genetics Home Reference: glutamate formiminotransferase deficiency  (National Library of Medicine)
• Genetics Home Reference: glutaric acidemia type I  (National Library of Medicine)
• Genetics Home Reference: glycine encephalopathy  (National Library of Medicine)
• Genetics Home Reference: guanidinoacetate methyltransferase deficiency  (National Library of Medicine)
• Genetics Home Reference: Hartnup disease  (National Library of Medicine)
• Genetics Home Reference: histidinemia  (National Library of Medicine)
• Genetics Home Reference: homocystinuria  (National Library of Medicine)
• Genetics Home Reference: hyperlysinemia  (National Library of Medicine)
• Genetics Home Reference: hypermethioninemia  (National Library of Medicine)
• Genetics Home Reference: hyperprolinemia  (National Library of Medicine)
• Genetics Home Reference: isobutyryl-CoA dehydrogenase deficiency  (National Library of Medicine)
• Genetics Home Reference: isovaleric acidemia  (National Library of Medicine)
• Genetics Home Reference: Lesch-Nyhan syndrome  (National Library of Medicine)
• Genetics Home Reference: lysinuric protein intolerance  (National Library of Medicine)
• Genetics Home Reference: maple syrup urine disease  (National Library of Medicine)
• Genetics Home Reference: methylmalonic acidemia  (National Library of Medicine)
• Genetics Home Reference: methylmalonic acidemia with homocystinuria  (National Library of Medicine)
• Genetics Home Reference: phosphoglycerate dehydrogenase deficiency  (National Library of Medicine)
• Genetics Home Reference: primary hyperoxaluria  (National Library of Medicine)
• Genetics Home Reference: prolidase deficiency  (National Library of Medicine)
• Genetics Home Reference: propionic acidemia  (National Library of Medicine)
• Genetics Home Reference: tyrosinemia  (National Library of Medicine)

Clinical Trials

• ClinicalTrials.gov: Amino Acid Metabolism, Inborn Errors  (National Institutes of Health)

Journal ArticlesReferences and abstracts from MEDLINE/PubMed (National Library of Medicine)

• Article: Interventions for lowering plasma homocysteine levels in dialysis patients.
• Article: [Complex heterogeneity phenotypes and genotypes of glutaric aciduria type 1].
• Article: Hermansky F, Pudlak P. Albinism associated with hemorrhagic diathesis and...
• Amino Acid Metabolism Disorders -- see more articles

Find an Expert

• Oxalosis and Hyperoxaluria Foundation