List of fatty acid metabolism disorders
From Wikipedia, the free encyclopedia
| ICD-9 | 277.85 |
|---|
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.
Some of the more common fatty acid metabolism disorders are:
Contents |
[edit] Coenzyme A dehydrogenase deficiencies
- Very long-chain acyl-coenzyme A dehydrogenase deficiency (VLCAD)
- Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (LCHAD)
- Medium-chain acyl-coenzyme A dehydrogenase deficiency (MCAD)
- Short-chain acyl-coenzyme A dehydrogenase deficiency (SCAD)
- Short chain L-3-hydroxyacyl-coA dehydrogenase deficiency (SCHAD)
[edit] Other Coenzyme A enzyme deficiencies
- 2,4 Dienoyl-CoA reductase deficiency
- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
- Malonyl-CoA decarboxylase deficiency
[edit] Carnitine related
- Primary carnitine deficiency
- Carnitine-acylcarnitine translocase deficiency
- Carnitine palmitoyltransferase I deficiency (CPT)
- Carnitine palmitoyltransferase II deficiency (CPT)
[edit] Lipid storage
- Acid lipase diseases
- Gaucher disease
- Niemann-Pick disease
- Fabry disease
- Farber’s disease
- Gangliosidoses
- Krabbé disease
- Metachromatic leukodystrophy
[edit] Other
- Mitochondrial trifunctional protein deficiency
- Electron transfer flavoprotein (ETF) dehydrogenase deficiency (GAII & MADD)
- Tangier disease
- Acute fatty liver of pregnancy
