Inborn error of lipid metabolism
Medical condition
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Through Genetic disorder, Redox and Cell (biology)
Some of the more common fatty acid metabolism disorders are:
Coenzyme A dehydrogenase deficiencies
- Very long-chain acyl-coenzyme A dehydrogenase deficiency (VLCAD) - Very long-chain acyl-coenzyme A dehydrogenase
- Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (LCHAD) - Long-chain 3-hydroxyacyl-coenzyme A
- Medium-chain acyl-coenzyme A dehydrogenase deficiency (MCAD) - Medium-chain acyl-coenzyme A dehydrogenase
- Short-chain acyl-coenzyme A dehydrogenase deficiency (SCAD) - Short-chain acyl-coenzyme A dehydrogenase
- 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (HADH) - 3-hydroxyacyl-coenzyme A dehydrogenase
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Other Coenzyme A enzyme deficiencies
- 2,4 Dienoyl-CoA reductase deficiency - 2,4 Dienoyl-CoA reductase
- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency - 3-hydroxy-3-methylglutaryl-CoA lyase
- Malonyl-CoA decarboxylase deficiency - Malonyl-CoA decarboxylase
Carnitine related
- Primary carnitine deficiency - SLC22A5 (carnitine transporter)
- Carnitine-acylcarnitine translocase deficiency - Carnitine-acylcarnitine translocase
- Carnitine palmitoyltransferase I deficiency (CPT) - Carnitine palmitoyltransferase I
- Carnitine palmitoyltransferase II deficiency (CPT) - Carnitine palmitoyltransferase II
Lipid storage
- Acid lipase diseases
- Wolman disease
- Cholesteryl ester storage disease
- Gaucher disease
- Niemann-Pick disease
- Fabry disease
- Farber's disease
- Gangliosidoses
- Krabbé disease
- Metachromatic leukodystrophy
Other
- Spinal muscular atrophy
- Mitochondrial trifunctional protein deficiency
- Electron transfer flavoprotein (ETF) dehydrogenase deficiency (GAII & MADD)
- Tangier disease
- Acute fatty liver of pregnancy
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