Inborn error of lipid metabolism

Inborn error of lipid metabolism
Inborn error of lipid metabolism
Classification and external resources

Several fatty acid molecules
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:

Contents

Coenzyme A dehydrogenase deficiencies

Other Coenzyme A enzyme deficiencies

Carnitine related

Lipid storage

Main article: Lipid storage disorder

Other

See also

v · d · eInborn error of lipid metabolism: dyslipidemia (E78, 272.0–272.6)
Hyperlipidemia
Hypercholesterolemia/Hypertriglyceridemia (Lipoprotein lipase deficiency/Type Ia, Familial apoprotein CII deficiency/Type Ib, Familial hypercholesterolemia/Type IIa, Combined hyperlipidemia/Type IIb, Familial dysbetalipoproteinemia/Type III, Familial hypertriglyceridemia/Type IV) · Xanthoma/Xanthomatosis
Hypolipoproteinemia
Lipodystrophy
Other

M: MET

mt, k, c/g/r/p/y/i, f/h/s/l/o/e, a/u, n, m

k, cgrp/y/i, f/h/s/l/o/e, au, n, m, epon

m(A16/C10),i(k, c/g/r/p/y/i, f/h/s/o/e, a/u, n, m)
v · d · e(LSD) Inborn error of lipid metabolism: lipid storage disorders (E75, 272.7–272.8)
Sphingolipidoses
(to ceramide)
Globotriaosylceramide: Fabry's disease
NCL
Other

M: MET

mt, k, c/g/r/p/y/i, f/h/s/l/o/e, a/u, n, m

k, cgrp/y/i, f/h/s/l/o/e, au, n, m, epon

m(A16/C10),i(k, c/g/r/p/y/i, f/h/s/o/e, a/u, n, m)
v · d · eInborn error of lipid metabolism: fatty-acid metabolism disorders (E71.3, 277.81–277.85)
Synthesis
Degradation
Acyl transport
General
Other
Sjögren–Larsson syndrome

M: MET

mt, k, c/g/r/p/y/i, f/h/s/l/o/e, a/u, n, m

k, cgrp/y/i, f/h/s/l/o/e, au, n, m, epon

m(A16/C10),i(k, c/g/r/p/y/i, f/h/s/o/e, a/u, n, m)

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