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Results 1 - 10 of 14 for Carnitine deficiency
  1. Primary carnitine deficiency 
    Primary carnitine deficiency is a condition that prevents the body from using certain fats for energy, particularly during periods without food (fasting). Carnitine, ...
    https://medlineplus.gov/.../condition/primary-carnitine-deficiency - Genetics
  2. Carnitine palmitoyltransferase I deficiency 
    ... type I CPT I deficiency Liver form of carnitine palmitoyltransferase deficiency Genetic Testing Registry: Carnitine palmitoyl transferase 1A deficiency ...
    https://medlineplus.gov/...rnitine-palmitoyltransferase-i-deficiency - Genetics
  3. Carnitine-acylcarnitine translocase deficiency 
    ... signs and symptoms of the condition. CACT deficiency Carnitine acylcarnitine translocase deficiency Carnitine-acylcarnitine carrier deficiency Genetic Testing Registry: Carnitine ...
    https://medlineplus.gov/...tine-acylcarnitine-translocase-deficiency - Genetics
  4. Carnitine palmitoyltransferase II deficiency 
    ... not show signs and symptoms of the condition. Carnitine palmitoyltransferase 2 deficiency CPT II deficiency CPT2 deficiency Genetic Testing Registry: ...
    https://medlineplus.gov/...nitine-palmitoyltransferase-ii-deficiency - Genetics
  5. 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
  6. 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
  7. 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
  8. CPT1A gene 
    ... in CPT 1A define molecular heterogeneity of hepatic carnitine palmitoyltransferase I deficiency. Mol Genet Metab. 2004 May;82(1):59- ... 004. Citation on PubMed Bennett MJ, Santani AB. Carnitine Palmitoyltransferase 1A Deficiency. 2005 Jul 27 [updated 2016 Mar 17]. In: ...
    https://medlineplus.gov/genetics/gene/cpt1a - Genetics
  9. Short-chain acyl-CoA dehydrogenase deficiency 
    Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is a condition that prevents the body from converting certain fats into energy, especially during periods ...
    https://medlineplus.gov/...t-chain-acyl-coa-dehydrogenase-deficiency - Genetics
  10. Isobutyryl-CoA dehydrogenase deficiency 
    ... cells (anemia) and very low blood levels of carnitine, which is a natural substance that helps convert certain foods into energy. The range of signs and symptoms associated with IBD deficiency remains unclear because very few affected individuals have ...
    https://medlineplus.gov/.../isobutyryl-coa-dehydrogenase-deficiency - Genetics
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