Carnitine palmitoyltransferase II deficiency
MONDO:0015515Carnitine 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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Browse by category →Sub-types of Carnitine palmitoyltransferase II deficiency