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Carnitine palmitoyl transferase II deficiency, severe infantile form
rareThe 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.
- Identifiers
- MONDO:0010914 OMIM:600649Orphanet:228305
- Causal genes
- CPT2
- Also known as
- Carnitine palmitoyl transferase deficiency type 2, hepatocardiomuscular form · Carnitine palmitoyl transferase deficiency type 2, severe infantile form · Carnitine palmitoyl transferase II deficiency, hepatocardiomuscular form · CPT II deficiency, infantile · CPT2, hepatocardiomuscular form
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