Inborn error of lipid metabolism: Difference between revisions
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Some of the more common fatty acid metabolism disorders are: | Some of the more common fatty acid metabolism disorders are: | ||
==Coenzyme A Dehydrogenase Deficiencies== | ===Coenzyme A Dehydrogenase Deficiencies=== | ||
*[[3-hydroxyacyl-coenzyme A dehydrogenase deficiency]] - [[3-hydroxyacyl-coenzyme A dehydrogenase]] | *[[3-hydroxyacyl-coenzyme A dehydrogenase deficiency]] - [[3-hydroxyacyl-coenzyme A dehydrogenase]] | ||
*[[Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency]] - [[Long-chain 3-hydroxyacyl-coenzyme A]] | *[[Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency]] - [[Long-chain 3-hydroxyacyl-coenzyme A]] | ||
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*[[Very long-chain acyl-coenzyme A dehydrogenase deficiency]] - [[Very long-chain acyl-coenzyme A dehydrogenase]] | *[[Very long-chain acyl-coenzyme A dehydrogenase deficiency]] - [[Very long-chain acyl-coenzyme A dehydrogenase]] | ||
==Other Coenzyme A Enzyme Deficiencies== | ===Other Coenzyme A Enzyme Deficiencies=== | ||
*[[2,4 Dienoyl-CoA reductase deficiency]] - [[2,4 Dienoyl-CoA reductase]] | *[[2,4 Dienoyl-CoA reductase deficiency]] - [[2,4 Dienoyl-CoA reductase]] | ||
*[[3-hydroxy-3-methylglutaryl-CoA lyase deficiency]] - [[3-hydroxy-3-methylglutaryl-CoA lyase]] | *[[3-hydroxy-3-methylglutaryl-CoA lyase deficiency]] - [[3-hydroxy-3-methylglutaryl-CoA lyase]] | ||
*[[Malonyl-CoA decarboxylase deficiency]] - [[Malonyl-CoA decarboxylase]] | *[[Malonyl-CoA decarboxylase deficiency]] - [[Malonyl-CoA decarboxylase]] | ||
==Carnitine related== | ===Carnitine related=== | ||
* [[Carnitine palmitoyltransferase I deficiency]] - [[Carnitine palmitoyltransferase I]] | * [[Carnitine palmitoyltransferase I deficiency]] - [[Carnitine palmitoyltransferase I]] | ||
* [[Carnitine palmitoyltransferase II deficiency]] - [[Carnitine palmitoyltransferase II]] | * [[Carnitine palmitoyltransferase II deficiency]] - [[Carnitine palmitoyltransferase II]] | ||
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* [[Primary carnitine deficiency]] - [[SLC22A5]] | * [[Primary carnitine deficiency]] - [[SLC22A5]] | ||
==Lipid storage== | ===Lipid storage=== | ||
*[[Acid lipase diseases]] | *[[Acid lipase diseases]] | ||
**[[Cholesteryl ester storage disease]] | **[[Cholesteryl ester storage disease]] | ||
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*[[Niemann-Pick disease]] | *[[Niemann-Pick disease]] | ||
== | ===Others=== | ||
* [[Spinal muscular atrophy]]<ref>{{cite doi|10.1016/0887-8994(94)00100-G}}</ref><ref>{{cite doi|10.1002/1531-8249(199903)45:3<337::AID-ANA9>3.0.CO;2-U}}</ref> | * [[Spinal muscular atrophy]]<ref>{{cite doi|10.1016/0887-8994(94)00100-G}}</ref><ref>{{cite doi|10.1002/1531-8249(199903)45:3<337::AID-ANA9>3.0.CO;2-U}}</ref> | ||
* [[Mitochondrial trifunctional protein deficiency]] | * [[Mitochondrial trifunctional protein deficiency]] | ||
Revision as of 14:34, 9 August 2013
| Inborn error of lipid metabolism | |
| Classification and external resources | |
| |
|---|---|
| Several fatty acid molecules |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
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.
Classification
Some of the more common fatty acid metabolism disorders are:
Coenzyme A Dehydrogenase Deficiencies
- 3-hydroxyacyl-coenzyme A dehydrogenase deficiency - 3-hydroxyacyl-coenzyme A dehydrogenase
- Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency - Long-chain 3-hydroxyacyl-coenzyme A
- Medium-chain acyl-coenzyme A dehydrogenase deficiency - Medium-chain acyl-coenzyme A dehydrogenase
- Short-chain acyl-coenzyme A dehydrogenase deficiency - Short-chain acyl-coenzyme A dehydrogenase
- Very long-chain acyl-coenzyme A dehydrogenase deficiency - Very long-chain acyl-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 palmitoyltransferase I deficiency - Carnitine palmitoyltransferase I
- Carnitine palmitoyltransferase II deficiency - Carnitine palmitoyltransferase II
- Carnitine-acylcarnitine translocase deficiency - Carnitine-acylcarnitine translocase
- Primary carnitine deficiency - SLC22A5
Lipid storage
- Acid lipase diseases
- Fabry disease
- Farber’s disease
- Gangliosidoses
- Gaucher disease
- Krabbé disease
- Metachromatic leukodystrophy
- Niemann-Pick disease
Others
- Spinal muscular atrophy[1][2]
- Mitochondrial trifunctional protein deficiency
- Electron transfer flavoprotein (ETF) dehydrogenase deficiency
- Tangier disease
- Acute fatty liver of pregnancy