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

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Overview

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

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

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

v • d • e WikiDoc Research Resources for Inborn errors of lipid metabolism
Articles on Inborn errors of lipid metabolism	Most recent articles on Inborn errors of lipid metabolism • Most cited articles on Inborn errors of lipid metabolism • Review articles on Inborn errors of lipid metabolism • Articles on Inborn errors of lipid metabolism in N Eng J Med, Lancet, BMJ
Media (Slides, Video, Images, MP3) on Inborn errors of lipid metabolism	Powerpoint slides on Inborn errors of lipid metabolism • Images of Inborn errors of lipid metabolism • Photos of Inborn errors of lipid metabolism • Podcasts & MP3s on Inborn errors of lipid metabolism • Videos on Inborn errors of lipid metabolism
Evidence Based Medicine Regarding Inborn errors of lipid metabolism	Cochrane Collaboration on Inborn errors of lipid metabolism • Bandolier on Inborn errors of lipid metabolism • TRIP on Inborn errors of lipid metabolism
Cost Effectiveness of Inborn errors of lipid metabolism	Cost Effectiveness of Inborn errors of lipid metabolism
Clinical Trials Involving Inborn errors of lipid metabolism	Ongoing Trials on Inborn errors of lipid metabolism at Clinical Trials.gov • Trial results on Inborn errors of lipid metabolism • Clinical Trials on Inborn errors of lipid metabolism at Google
Guidelines / Policies / Government Resources (FDA/CDC) Regarding Inborn errors of lipid metabolism	US National Guidelines Clearinghouse on Inborn errors of lipid metabolism • NICE Guidance on Inborn errors of lipid metabolism • NHS PRODIGY Guidance • FDA on Inborn errors of lipid metabolism • CDC on Inborn errors of lipid metabolism
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Healthcare Provider Resources on Inborn errors of lipid metabolism	Symptoms of Inborn errors of lipid metabolism • Causes & Risk Factors for Inborn errors of lipid metabolism • Diagnostic studies for Inborn errors of lipid metabolism • Treatment of Inborn errors of lipid metabolism
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v • d • e 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 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
Other	Neuronal ceroid lipofuscinosis (Batten disease) - Cerebrotendineous xanthomatosis - Cholesteryl ester storage disease (Wolman disease)

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Some of the initial content on this page may be incorporated in part from copyleft sources in the public domain including wikis such as Wikipedia and AskDrWiki. Drug information for patients came from the The National Library of Medicine. Infectious disease information may have come from the Centers for Disease Control (CDC). Differential Diagnoses are drawn from clinicians as well as an amalgamation of 3 sources: 1.The Disease Database; 2. Kahan, Scott, Smith, Ellen G. In A Page: Signs and Symptoms. Malden, Massachusetts: Blackwell Publishing, 2004:3; 3. Sailer, Christian, Wasner, Susanne. Differential Diagnosis Pocket. Hermosa Beach, CA: Borm Bruckmeir Publishing LLC, 2002:7 .