Inborn error of lipid metabolism
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| Inborn error of lipid metabolism | |
| Classification and external resources | |
| |
|---|---|
| Several fatty acid molecules |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
Numerous genetic disorders are caused by errors in fatty acid metabolism. These disorders may be described as fatty oxidation disorders or as a lipid storage disorders, and are any one of several inborn errors of metabolism that result from enzyme defects affecting the ability of the body to oxidize fatty acids in order to produce energy within muscles, liver, and other cell types.
Classification
Some of the more common fatty acid metabolism disorders are:
Coenzyme A Dehydrogenase Deficiencies
- 3-hydroxyacyl-coenzyme A dehydrogenase deficiency
- Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency
- Medium-chain acyl-coenzyme A dehydrogenase deficiency
- Short-chain acyl-coenzyme A dehydrogenase deficiency
- Very long-chain acyl-coenzyme A dehydrogenase deficiency
Other Coenzyme A Enzyme Deficiencies
- 2,4 Dienoyl-CoA reductase deficiency
- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
- Malonyl-CoA decarboxylase deficiency
- Carnitine palmitoyltransferase I deficiency
- Carnitine palmitoyltransferase II deficiency
- Carnitine-acylcarnitine translocase deficiency
- Primary carnitine deficiency
Lipid storage
- Acid lipase diseases
- Fabry disease
- Farber’s disease
- Gangliosidoses
- Gaucher disease
- Krabbé disease
- Metachromatic leukodystrophy
- Niemann-Pick disease
Others
- Spinal muscular atrophy
- Mitochondrial trifunctional protein deficiency
- Electron transfer flavoprotein dehydrogenase deficiency
- Tangier disease
- Acute fatty liver of pregnancy