Carnitine palmitoyl transferase II deficiency, severe infantile form

MONDO:0010914

The severe infantile form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the early-onset form of the disease.

Also known as: CPT II deficiency, infantile, CPT2, hepatocardiomuscular form, CPT2, severe infantile form, CPTII, hepatocardiomuscular form, CPTII, severe infantile form, Carnitine palmitoyl transferase II deficiency, hepatocardiomuscular form, Carnitine palmitoyl transferase deficiency type 2, hepatocardiomuscular form, Carnitine palmitoyl transferase deficiency type 2, severe infantile 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

Carnitine palmitoyl transferase II deficiency, severe infantile form

Broader categories

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