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Results 1 - 10 of 10 for Disorder of fatty acid metabolism
  1. 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
  2. LPL gene 
    The LPL gene provides instructions for making an enzyme called lipoprotein lipase. This enzyme is found primarily on the surface of cells that line tiny ...
    https://medlineplus.gov/genetics/gene/lpl - Genetics
  3. 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
  4. 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
  5. SLC22A5 gene 
    ... 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. More About This Health Condition MedlinePlus Genetics provides ...
    https://medlineplus.gov/genetics/gene/slc22a5 - Genetics
  6. GAMT gene 
    ... is thought to help activate a process called fatty acid oxidation. This process provides an ... deficiency, a disorder that involves intellectual disability and seizures. Most affected ...
    https://medlineplus.gov/genetics/gene/gamt - Genetics
  7. MMACHC gene 
    ... protein building blocks (amino acids), fat building blocks (fatty acids), and cholesterol. AdoCbl is called a cofactor because ... function normally. As a result, certain amino acids, fatty acids, and cholesterol are not broken down and homocysteine ...
    https://medlineplus.gov/genetics/gene/mmachc - Genetics
  8. ABCD4 gene 
    ... protein building blocks (amino acids), fat building blocks (fatty acids), and cholesterol. AdoCbl is called a cofactor because ... function normally. As a result, certain amino acids, fatty acids, and cholesterol are not broken down and homocysteine ...
    https://medlineplus.gov/genetics/gene/abcd4 - Genetics
  9. LIPC gene 
    ... of its Role on Plasma Lipid and Lipoprotein Metabolism. J Atheroscler Thromb. 2015;22(10):1001-11. ... FK, Dolnikowski GG, Taskinen MR, Lichtenstein AH. Lipoprotein metabolism in subjects with hepatic lipase deficiency. Metabolism. 2004 ...
    https://medlineplus.gov/genetics/gene/lipc - Genetics
  10. SLC25A24 gene 
    ... for normal energy production, the formation and breakdown (metabolism) of various molecules, and protein production within cells. ... have been found in individuals with a similar disorder known as Fontaine syndrome or Petty-type congenital ...
    https://medlineplus.gov/genetics/gene/slc25a24 - Genetics