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Results 1 - 10 of 20 for Disorder of fatty acid metabolism
  1. 3-hydroxyacyl-CoA dehydrogenase deficiency 
    ... muscles, causing serious complications.Conditions that disrupt the metabolism of fatty acids, including 3-hydroxyacyl-CoA dehydrogenase deficiency, are known as fatty acid oxidation disorders. HADH This condition is inherited in an autosomal ...
    https://medlineplus.gov/...-hydroxyacyl-coa-dehydrogenase-deficiency - Genetics
  2. Chanarin-Dorfman syndrome 
    ... NLSDI Triglyceride storage disease with ichthyosis Triglyceride storage disease with impaired long-chain fatty acid oxidation Genetic Testing Registry: Triglyceride storage disease with ...
    https://medlineplus.gov/genetics/condition/chanarin-dorfman-syndrome - Genetics
  3. Primary carnitine deficiency 
    ... carnitine deficiency, such as muscle weakness and hypoglycemia. Fatty acids can also build up in cells and damage the liver, heart, and muscles. This abnormal buildup causes the other signs and symptoms of the disorder. SLC22A5 This condition is inherited in an autosomal ...
    https://medlineplus.gov/.../condition/primary-carnitine-deficiency - Genetics
  4. CYP4V2 gene 
    ... CYP4V2 in Bietti's crystalline dystrophy: ocular localization, metabolism of omega-3-polyunsaturated fatty acids, and functional deficit of the p.H331P variant. ...
    https://medlineplus.gov/genetics/gene/cyp4v2 - Genetics
  5. Short-chain acyl-CoA dehydrogenase deficiency 
    ... MT, Kishnani PS, Chen YT, Millington DS. Rare disorders of metabolism with elevated butyryl- and isobutyryl-carnitine detected by ...
    https://medlineplus.gov/...t-chain-acyl-coa-dehydrogenase-deficiency - Genetics
  6. Methylmalonic acidemia with homocystinuria 
    ... Sloan JL, Carrillo N, Adams D, Venditti CP. Disorders of Intracellular Cobalamin Metabolism. 2008 Feb 25 [updated 2021 Dec 16]. In: ...
    https://medlineplus.gov/...ethylmalonic-acidemia-with-homocystinuria - Genetics
  7. FOLR1 gene 
    ... causes cerebral folate transport deficiency: a treatable neurodegenerative disorder associated with disturbed myelin metabolism. Am J Hum Genet. 2009 Sep;85(3): ...
    https://medlineplus.gov/genetics/gene/folr1 - Genetics
  8. PC gene 
    ... 1002/humu.20908. Citation on PubMed Pithukpakorn M. Disorders of pyruvate metabolism and the tricarboxylic acid cycle. Mol Genet Metab. ...
    https://medlineplus.gov/genetics/gene/pc - Genetics
  9. Warfarin sensitivity 
    ... the body. The CYP2C9 enzyme breaks down steroids, fatty acids, and certain drugs, including warfarin. Several CYP2C9 gene polymorphisms decrease the activity of the CYP2C9 enzyme and slow the body's metabolism of warfarin. As a result, the drug remains ...
    https://medlineplus.gov/genetics/condition/warfarin-sensitivity - Genetics
  10. Combined malonic and methylmalonic aciduria 
    ... psychiatric diseases. CMAMMA ... that plays a role in the formation (synthesis) of fatty acids. Fatty acids are building blocks used to make ...
    https://medlineplus.gov/...mbined-malonic-and-methylmalonic-aciduria - Genetics
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