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 1 Coenzyme A dehydrogenase deficiencies 2 Other Coenzyme A enzyme deficiencies 3 Carnitine related 4 Lipid storage 5 Other 6 See also

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

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

See also

• Fatty acid synthase
• Essential fatty acid
• Fatty acid metabolism
• Orthomolecular medicine

Inborn 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 Hypoalphalipoproteinemia/HDL Lecithin cholesterol acyltransferase deficiency · Tangier disease Hypobetalipoproteinemia/LDL Abetalipoproteinemia · Apolipoprotein B deficiency · Chylomicron retention disease Lipodystrophy Barraquer–Simons syndrome Other Lipomatosis · Adiposis dolorosa · Lipoid proteinosis · APOA1 familial renal amyloidosis 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)

(LSD) Inborn error of lipid metabolism: lipid storage disorders (E75, 272.7–272.8) Sphingolipidoses (to ceramide) 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 NCL Infantile · Jansky-Bielschowsky disease · Batten disease Other Cerebrotendineous xanthomatosis · Cholesteryl ester storage disease (Lysosomal acid lipase deficiency/Wolman disease) · Sea-blue histiocyte 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)

Inborn error of lipid metabolism: fatty-acid metabolism disorders (E71.3, 277.81–277.85) Synthesis Biotinidase deficiency Degradation Acyl transport Carnitine (Primary, I, II, -acylcarnitine) · Adrenoleukodystrophy Beta oxidation 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 To acetyl-CoA Malonic aciduria Aldehyde 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)