List of fatty acid metabolism disorders

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

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

Main article: Lipid storage disorder

• 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

• Mitochondrial trifunctional protein deficiency
• Electron transfer flavoprotein (ETF) dehydrogenase deficiency (GAII & MADD)
• Tangier disease
• Acute fatty liver of pregnancy

See also

• Fatty acid synthase
• Essential fatty acid
• Fatty acid metabolism
• Orthomolecular medicine