Inborn error of lipid metabolism

Inborn error of lipid metabolism

Several fatty acid molecules
Classification and external resources
ICD-10 E75, E78
ICD-9 272, 277.85
MeSH D008052

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

Other Coenzyme A enzyme deficiencies

Carnitine related

Lipid storage

Other

See also

References

  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.