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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

1 clinical trial for this condition and its sub-types, 1 tagged with Carnitine palmitoyltransferase II deficiency itself.

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