Inborn error of lipid metabolism

Inborn error of lipid metabolism
Classification and external resources
Several fatty acid molecules

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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 - 3-hydroxyacyl-coenzyme A dehydrogenase
• Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency - Long-chain 3-hydroxyacyl-coenzyme A
• Medium-chain acyl-coenzyme A dehydrogenase deficiency - Medium-chain acyl-coenzyme A dehydrogenase
• Short-chain acyl-coenzyme A dehydrogenase deficiency - Short-chain acyl-coenzyme A dehydrogenase
• Very long-chain acyl-coenzyme A dehydrogenase deficiency - Very long-chain acyl-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

• Carnitine palmitoyltransferase I deficiency - Carnitine palmitoyltransferase I
• Carnitine palmitoyltransferase II deficiency - Carnitine palmitoyltransferase II
• Carnitine-acylcarnitine translocase deficiency - Carnitine-acylcarnitine translocase
• Primary carnitine deficiency - SLC22A5

Lipid storage

• Acid lipase diseases
  • Cholesteryl ester storage disease
  • Wolman disease
• 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 (ETF) dehydrogenase deficiency
• Tangier disease
• Acute fatty liver of pregnancy