Inborn error of lipid metabolism

Inborn error of lipid metabolism

Several fatty acid molecules
Classification and external resources
Specialty	endocrinology
ICD-10	E75, E78
ICD-9-CM	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

↑ 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. PMID 7748356. doi:10.1016/0887-8994(94)00100-G.
↑ 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. PMID 10072048. doi:10.1002/1531-8249(199903)45:3<337::AID-ANA9>3.0.CO;2-U.

Hypoalphalipoproteinemia/HDL	Lecithin cholesterol acyltransferase deficiency Tangier disease
Hypobetalipoproteinemia/LDL	Abetalipoproteinemia Apolipoprotein B deficiency Chylomicron retention disease

Other

From ganglioside (gangliosidoses)	Ganglioside: GM1 gangliosidoses GM2 gangliosidoses (Sandhoff disease Tay–Sachs disease AB variant)
From globoside	Globotriaosylceramide: Fabry's disease
From sphingomyelin	Sphingomyelin: phospholipid: Niemann–Pick disease (SMPD1-associated type C) Glucocerebroside: Gaucher's disease
From sulfatide (sulfatidoses leukodystrophy)	Sulfatide: Metachromatic leukodystrophy Multiple sulfatase deficiency Galactocerebroside: Krabbe disease
To sphingosine	Ceramide: Farber disease

Other

Synthesis

Degradation

General	Acyl CoA dehydrogenase Short-chain Medium-chain Long-chain 3-hydroxy Very long-chain Mitochondrial trifunctional protein deficiency: Acute fatty liver of pregnancy
Unsaturated	2,4 Dienoyl-CoA reductase deficiency
Odd chain	Propionic acidemia
Other	3-hydroxyacyl-coenzyme A dehydrogenase deficiency

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