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Fatty oxidation disorder

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Fatty-acid metabolism disorder
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.


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:


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 alsoEdit


  1. Lipid Metabolism: Hereditary Metabolic Disorders: Merck Manual Home Edition. URL accessed on 2009-03-11.
  2. 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.
  3. 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.
  4. Fatty Acid and Glycerol Metabolism Disorders: Inherited Disorders of Metabolism: Merck Manual Professional. URL accessed on 2009-03-11.
  5. 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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