Inborn error of lipid metabolism: Difference between revisions
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==Overview== | ==Overview== | ||
Numerous [[genetic disorders]] are caused by errors in [[fatty acid]] [[metabolism]]. These disorders may be described as [[fatty oxidation | 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 (biology)|cell]] types. | ||
==Classification== | ==Classification== | ||
Some of the more common fatty acid metabolism disorders are: | Some of the more common fatty acid metabolism disorders are: | ||
==Coenzyme A | ==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 dehydrogenase deficiency]] - [[Long-chain 3-hydroxyacyl-coenzyme A]] | ||
* [[Medium-chain acyl-coenzyme A dehydrogenase deficiency]] | *[[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 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 | ==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 II deficiency]] - [[Carnitine palmitoyltransferase II]] | |||
* [[Carnitine-acylcarnitine translocase deficiency]] - [[Carnitine-acylcarnitine translocase]] | * [[Carnitine-acylcarnitine translocase deficiency]] - [[Carnitine-acylcarnitine translocase]] | ||
* [[ | * [[Primary carnitine deficiency]] - [[SLC22A5]] | ||
==Lipid storage== | ==Lipid storage== | ||
*[[Acid lipase diseases]] | |||
*[[Acid lipase disease]] | **[[Cholesteryl ester storage disease]] | ||
**[[Wolman disease]] | **[[Wolman disease]] | ||
*[[Fabry disease]] | *[[Fabry disease]] | ||
*[[Farber’s disease]] | *[[Farber’s disease]] | ||
*[[Gangliosidoses]] | *[[Gangliosidoses]] | ||
*[[Gaucher disease]] | |||
*[[Krabbé disease]] | *[[Krabbé disease]] | ||
*[[Metachromatic leukodystrophy]] | *[[Metachromatic leukodystrophy]] | ||
*[[Niemann-Pick disease]] | |||
==Other== | ==Other== | ||
* [[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]] | ||
* [[Electron transfer flavoprotein dehydrogenase deficiency|Electron transfer flavoprotein (ETF) dehydrogenase deficiency]] | * [[Electron transfer flavoprotein dehydrogenase deficiency|Electron transfer flavoprotein (ETF) dehydrogenase deficiency]] | ||
* [[Tangier disease]] | * [[Tangier disease]] | ||
* [[Acute fatty liver of pregnancy]] | * [[Acute fatty liver of pregnancy]] | ||
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{{Reflist|2}} | {{Reflist|2}} | ||
[Category:Fatty acids]] | [[Category:Fatty acids]] | ||
[[Category:Lipid metabolism disorders|Fatty]] | [[Category:Lipid metabolism disorders|Fatty]] | ||
{{WH}} | {{WH}} | ||
{{WS}} | {{WS}} | ||
Revision as of 14:33, 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
Other
- Spinal muscular atrophy[1][2]
- Mitochondrial trifunctional protein deficiency
- Electron transfer flavoprotein (ETF) dehydrogenase deficiency
- Tangier disease
- Acute fatty liver of pregnancy