Inborn error of lipid metabolism

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:

• 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

• 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

• Acid lipase diseases
  • Cholesteryl ester storage disease
  • Wolman disease
• Fabry disease
• Farber’s disease
• Gangliosidoses
• Gaucher disease
• Krabbé disease
• Metachromatic leukodystrophy
• Niemann-Pick disease

• Spinal muscular atrophy
• Mitochondrial trifunctional protein deficiency
• Electron transfer flavoprotein dehydrogenase deficiency
• Tangier disease
• Acute fatty liver of pregnancy

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