• Source: 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:




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



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




See also


Fatty acid synthase
Essential fatty acid
Fatty acid metabolism
Orthomolecular medicine




References






External links

Kata Kunci Pencarian:

• Inborn error of lipid metabolism
• Lipid metabolism
• Fatty acid metabolism
• Fatty-acid metabolism disorder
• Carbohydrate metabolism
• Metabolic disorder
• Lipid storage disorder
• Metabolism
• Exercise intolerance
• Metabolic myopathy