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Results 1 - 6 of 6 for Carnitine deficiency
  1. SLC22A5 gene 
    ... SLC22A5 gene have been found to cause primary carnitine deficiency. Some of these variants create a premature stop ... lead to some of the features of primary carnitine deficiency, such as muscle weakness and hypoglycemia. Fatty acids ...
    https://medlineplus.gov/genetics/gene/slc22a5 - Genetics
  2. SLC25A20 gene 
    ... Mutational spectrum and DNA-based prenatal diagnosis in carnitine-acylcarnitine translocase deficiency. Mol Genet Metab. 2003 Jan;78(1):68- ... Birk OS, Kazanovitz A, Moses SW, Hershkovitz E. Carnitine-acylcarnitine translocase deficiency: identification of a novel molecular defect in a ...
    https://medlineplus.gov/genetics/gene/slc25a20 - Genetics
  3. CPT2 gene 
    ... PubMed Deschauer M, Wieser T, Zierz S. Muscle carnitine palmitoyltransferase II deficiency: clinical and molecular genetic features and diagnostic aspects. ...
    https://medlineplus.gov/genetics/gene/cpt2 - Genetics
  4. CPT1A gene 
    ... in CPT 1A define molecular heterogeneity of hepatic carnitine palmitoyltransferase I deficiency. Mol Genet Metab. 2004 May;82(1):59- ... Prip-Buus C. Functional and structural basis of carnitine palmitoyltransferase 1A deficiency. J Biol Chem. 2003 Dec 12;278(50): ...
    https://medlineplus.gov/genetics/gene/cpt1a - Genetics
  5. ACAD8 gene 
    ... in IBD (ACAD8) in children with elevated C4-carnitine detected by tandem mass ... deficiency: an unrecognized defect in human valine metabolism. Mol ...
    https://medlineplus.gov/genetics/gene/acad8 - Genetics
  6. ACADS gene 
    ... is common but not associated with increased C4-carnitine in newborn blood spots. ... chain acyl-CoA dehydrogenase deficiency. Clin Chim Acta. 2003 Nov;337(1-2): ...
    https://medlineplus.gov/genetics/gene/acads - Genetics