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| ICD-10 | E713 | |
|---|---|---|
| ICD-9 | 277.81-277.85 | |
| OMIM | [1] | |
| DiseasesDB | [2] | |
| MedlinePlus | [3] | |
| eMedicine | / | |
| MeSH | {{{MeshNumber}}} | |
A fatty-acid metabolism disorder is a defect in one of the enzymes involved in fatty acid metabolism.
They are sometimes classified with the lipid metabolism disorders,[1] but in other contexts they are considered a distinct category.
Oxidation[]
The term fatty acid oxidation disorder (FAOD) is sometimes used, especially when there is an emphasis on the oxidation of the fatty acid.[2]
In addition to the fetal complications, they can also cause complications for the mother during pregnancy.[3]
Examples include:
Schematic demonstrating mitochondrial fatty acid beta-oxidation and effects of LCHAD deficiency
Carnitine/transport[]
The fatty acids are transported by carnitine, and defects in this process are associated with several disorders.[5] They involve the step immediately before oxidation, and are often grouped with the oxidation disorders.
See also[]
References[]
- ↑ Lipid Metabolism: Hereditary Metabolic Disorders: Merck Manual Home Edition. URL accessed on 2009-03-11.
- ↑ 2.0 2.1 Shekhawat PS, Matern D, Strauss AW (May 2005). Fetal fatty acid oxidation disorders, their effect on maternal health and neonatal outcome: impact of expanded newborn screening on their diagnosis and management. Pediatr. Res. 57 (5 Pt 2): 78R–86R.
- ↑ Ibdah JA, Bennett MJ, Rinaldo P, et al (June 1999). A fetal fatty-acid oxidation disorder as a cause of liver disease in pregnant women. N. Engl. J. Med. 340 (22): 1723–31.
- ↑ Fatty Acid and Glycerol Metabolism Disorders: Inherited Disorders of Metabolism: Merck Manual Professional. URL accessed on 2009-03-11.
- ↑ Longo N, Amat di San Filippo C, Pasquali M (May 2006). Disorders of carnitine transport and the carnitine cycle. Am J Med Genet C Semin Med Genet 142C (2): 77–85.
Template:Fatty-acid metabolism disorders
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