Lipid Metabolism Disorders
08/24/2016 05:38 PM EDT  Visit the new MedlinePlus Health Topic page on Lipid Metabolism Disorders. Lipid metabolism disorders, such as Gaucher disease and Tay-Sachs disease, involve lipids. Lipids are fats or fat-like substances... |
Metabolism is the process your body uses to make energy from the food you eat. Food is made up of proteins, carbohydrates, and fats. Chemicals in your digestive system (enzymes) 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. If you have a metabolic disorder, something goes wrong with this process.
Lipid metabolism disorders, such as Gaucher disease and Tay-Sachs disease, involve lipids. Lipids are fats or fat-like substances. They include oils, fatty acids, waxes, and cholesterol. If you have one of these disorders, you may not have enough enzymes to break down lipids. Or the enzymes may not work properly and your body can't convert the fats into energy. They cause a harmful amount of lipids to build up in your body. Over time, that can damage your cells and tissues, especially in the brain, peripheral nervous system, liver, spleen, and bone marrow. Many of these disorders can be very serious, or sometimes even fatal.
These disorders are inherited. Newborn babies get screened for some of them, using blood tests. If there is a family history of one of these disorders, parents can get genetic testing to see whether they carry the gene. Other genetic tests can tell whether the fetus has the disorder or carries the gene for the disorder.
Enzyme replacement therapies can help with a few of these disorders. For others, there is no treatment. Medicines, blood transfusions, and other procedures may help with complications.
- Disorders of Lipid Metabolism (Merck & Co., Inc.)
- Fatty Acid Oxidation Disorders (March of Dimes Birth Defects Foundation)
- Lipid Storage Diseases
(National Institute of Neurological Disorders and Stroke)Also in Spanish - Lipid Storage Diseases (National Institute of Neurological Disorders and Stroke)
- MedlinePlus: Genetic Testing (National Library of Medicine)Also in Spanish
- MedlinePlus: Newborn Screening (National Library of Medicine)Also in Spanish
- Treatment of Fatty Acid Oxidation Disorders (March of Dimes Birth Defects Foundation)
- Acid Lipase Disease (National Institute of Neurological Disorders and Stroke)
- Barth Syndrome (BTHS) (National Institute of Neurological Disorders and Stroke)
- Fabry Disease (National Institute of Neurological Disorders and Stroke)
- Farber's Disease (National Institute of Neurological Disorders and Stroke)
- Gangliosidoses (National Institute of Neurological Disorders and Stroke)
- MedlinePlus: Gaucher Disease (National Library of Medicine)
- MedlinePlus: Tay-Sachs Disease (National Library of Medicine)
- Niemann-Pick Disease (National Institute of Neurological Disorders and Stroke)
- Genetics Home Reference: 17β-hydroxysteroid dehydrogenase type 10 deficiency (National Library of Medicine)
- Genetics Home Reference: 3-hydroxyacyl-CoA dehydrogenase deficiency (National Library of Medicine)
- Genetics Home Reference: carnitine palmitoyltransferase I deficiency (National Library of Medicine)
- Genetics Home Reference: carnitine palmitoyltransferase II deficiency (National Library of Medicine)
- Genetics Home Reference: carnitine-acylcarnitine translocase deficiency (National Library of Medicine)
- Genetics Home Reference: cerebrotendinous xanthomatosis (National Library of Medicine)
- Genetics Home Reference: Chanarin-Dorfman syndrome (National Library of Medicine)
- Genetics Home Reference: combined malonic and methylmalonic aciduria (National Library of Medicine)
- Genetics Home Reference: desmosterolosis (National Library of Medicine)
- Genetics Home Reference: Fabry disease (National Library of Medicine)
- Genetics Home Reference: familial lipoprotein lipase deficiency (National Library of Medicine)
- Genetics Home Reference: Farber lipogranulomatosis (National Library of Medicine)
- Genetics Home Reference: hypercholesterolemia (National Library of Medicine)
- Genetics Home Reference: long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (National Library of Medicine)
- Genetics Home Reference: malonyl-CoA decarboxylase deficiency (National Library of Medicine)
- Genetics Home Reference: medium-chain acyl-CoA dehydrogenase deficiency (National Library of Medicine)
- Genetics Home Reference: MEGDEL syndrome (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: mucolipidosis type IV (National Library of Medicine)
- Genetics Home Reference: neutral lipid storage disease with myopathy (National Library of Medicine)
- Genetics Home Reference: Niemann-Pick disease (National Library of Medicine)
- Genetics Home Reference: primary carnitine deficiency (National Library of Medicine)
- Genetics Home Reference: rhizomelic chondrodysplasia punctata (National Library of Medicine)
- Genetics Home Reference: short-chain acyl-CoA dehydrogenase deficiency (National Library of Medicine)
- Genetics Home Reference: sitosterolemia (National Library of Medicine)
- Genetics Home Reference: Smith-Lemli-Opitz syndrome (National Library of Medicine)
- Genetics Home Reference: very long-chain acyl-CoA dehydrogenase deficiency (National Library of Medicine)
- Genetics Home Reference: Wolman disease (National Library of Medicine)
- ClinicalTrials.gov: Lipid Metabolism Disorders (National Institutes of Health)
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