Inborn error of lipid metabolism

Inborn error of lipid metabolism
Inborn error of lipid metabolism
	Several fatty acid molecules
Specialty	Endocrinology

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[1][2]
Mitochondrial trifunctional protein deficiency
Electron transfer flavoprotein (ETF) dehydrogenase deficiency (GAII & MADD)
Tangier disease
Acute fatty liver of pregnancy

References

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.
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 links

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[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.