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Carnitine palmitoyl transferase II deficiency, myopathic form

MONDO:0009704

The myopathic form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the most common and the least severe form of CPT II deficiency.

Also known as: CPT II deficiency, myopathic, stress-induced, CPT2, adult-onset form, CPT2, myopathic form, CPTII, adult-onset form, CPTII, myopathic form, Carnitine palmitoyl transferase II deficiency, adult-onset form, Carnitine palmitoyl transferase deficiency type 2, adult-onset form, Carnitine palmitoyl transferase deficiency type 2, myopathic form

24 clinical trials for this condition and its sub-types.

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Broader categories

Disease (618) Metabolic disease (215) Hereditary disease (172) Inborn errors of metabolism (42) Human disease (14) Disorder of fatty acid and ketone body metabolism (3) Disease of genetic or genomic mechanism (2) Carnitine palmitoyltransferase II deficiency (1) Inborn disorder of energy metabolism (1) Carnitine palmitoyl transferase deficiency (0)
Trials to join now! 13 Not yet recruiting 3 Not yet finished but already full! 3 Completed 5
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