Inborn errors of lipid metabolism

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Inborn errors 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

[edit] 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

[edit] 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

[edit] 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

[edit] Lipid storage

Main article: Lipid storage disorder

• Acid lipase diseases
  • Wolman disease
  • Cholesteryl ester storage disease
• Gaucher disease
• Niemann-Pick disease
• Fabry disease
• Farber’s disease
• Gangliosidoses
• Krabbé disease
• Metachromatic leukodystrophy

[edit] Other

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

[edit] See also

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

v • d • e Lipid metabolism disorders / Inborn error of lipid metabolism - dyslipidemia (E78 and E71.3, 272) Hyperlipidemia Hypercholesterolemia/Hypertriglyceridemia (Familial hypercholesterolemia, Combined hyperlipidemia) - Xanthoma Hypolipoproteinemia Hypoalphalipoproteinemia/HDL (Lecithin cholesterol acyltransferase deficiency, Tangier disease) Hypobetalipoproteinemia/LDL (Abetalipoproteinemia, Apolipoprotein B deficiency) Lipodystrophy Barraquer-Simons syndrome Fatty acid metabolism deficiency transport: Carnitine (Primary, I, II, -acylcarnitine) - Adrenoleukodystrophy beta oxidation: Acyl CoA dehydrogenase (Short-chain, Medium-chain, Long-chain 3-hydroxy, Very long-chain) - Mitochondrial trifunctional protein deficiency to acetyl-CoA: Malonic aciduria Cholesterol synthesis Smith-Lemli-Opitz syndrome Other Sjögren-Larsson syndrome - Lipomatosis - Adiposis dolorosa see also lipid metabolism enzymes, lipoprotein metabolism

v • d • e Inborn error of lipid metabolism - Lysosomal storage diseases - lipid storage disorders (E75, 272.7-272.8, 330.0-330.1) Sphingolipidoses Gangliosidoses: GM1 gangliosidoses, GM2 gangliosidoses (Sandhoff disease, Tay-Sachs disease, AB variant) Fabry's disease - Gaucher's disease sulfated: Leukodystrophy (Metachromatic leukodystrophy, Krabbe disease) ceramide: Farber disease phospholipid: Niemann-Pick disease Neuronal ceroid lipofuscinosis Infantile - Jansky-Bielschowsky disease - Batten disease Other Cerebrotendineous xanthomatosis - Cholesteryl ester storage disease (Wolman disease) see also glycolipid metabolism enzymes