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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, ...
- Carnitine palmitoyltransferase II (CPT II) deficiency is a condition that prevents the body from using certain fats for energy, particularly during periods of fasting. ...
- ... signs and symptoms of the condition. CACT deficiency Carnitine acylcarnitine translocase deficiency Carnitine-acylcarnitine carrier deficiency Genetic Testing Registry: Carnitine ...
- ... Hepatic CPT1 L-CPT1 deficiency Liver form of carnitine palmitoyltransferase deficiency Nonketotic hypoglycemia Genetic Testing Registry: Carnitine palmitoyl transferase ...
- ... 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 ...
- ... 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 ...
- ... PubMed Deschauer M, Wieser T, Zierz S. Muscle carnitine palmitoyltransferase II deficiency: clinical and molecular genetic features and diagnostic aspects. ...
- ... 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): ...
- Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is a condition that prevents the body from converting certain fats into energy, especially during periods ...
- ... blood, can detect IBD deficiency. People with IBD deficiency have high levels of a compound called carnitine (specifically a form called C4-acylcarnitine). Cells use ...
