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.

Inborn error of lipid metabolism
Several fatty acid molecules
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Some of the more common fatty acid metabolism disorders are:

Coenzyme A dehydrogenase deficienciesEdit

Other Coenzyme A enzyme deficienciesEdit

Carnitine relatedEdit

Lipid storageEdit


See alsoEdit


  1. ^ Tein, I.; Sloane, A. E.; Donner, E. J.; Lehotay, D. C.; Millington, D. S.; Kelley, R. I. (1995). "Fatty acid oxidation abnormalities in childhood-onset spinal muscular atrophy: Primary or secondary defect(s)?". Pediatric Neurology. 12 (1): 21–30. doi:10.1016/0887-8994(94)00100-G. PMID 7748356.
  2. ^ Crawford, T. O.; Sladky, J. T.; Hurko, O.; Besner-Johnston, A.; Kelley, R. I. (1999). "Abnormal fatty acid metabolism in childhood spinal muscular atrophy". Annals of Neurology. 45 (3): 337–343. doi:10.1002/1531-8249(199903)45:3<337::AID-ANA9>3.0.CO;2-U. PMID 10072048.

External linksEdit