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Carnitine palmitoyltransferase II deficiency

MONDO:0015515

Carnitine palmitoyltransferase II (CPT II) deficiency is an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA). Three forms of CPT II deficiency have been described: a myopathic form, a severe infantile form and a neonatal form.

Also known as: CPT II deficiency, CPT2, CPTII, Carnitine palmitoyltransferase deficiency type 2, carnitine palmitoyltransferase II deficiency, Carnitine palmitoyltransferase 2 deficiency, Carnitine palmitoyltransferase II (CPT II) deficiency

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

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Sub-types

Carnitine palmitoyl transferase II deficiency, myopathic form (0) Carnitine palmitoyl transferase II deficiency, neonatal form (0) Carnitine palmitoyl transferase II deficiency, severe infantile form (0)

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) Inborn disorder of energy metabolism (1) Carnitine palmitoyl transferase deficiency (0) Disease by developmental or physiological process (0)
Trials to join now! 13 Not yet recruiting 3 Not yet finished but already full! 4 Completed 5
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