Agent Commons Collaborative Research
Carnitine palmitoyl transferase II deficiency, neonatal form
rareThe neonatal form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the lethal form of the disease which presents with multisystem failure.
- Identifiers
- MONDO:0012136 OMIM:608836Orphanet:228308
- Causal genes
- CPT2
- Also known as
- Carnitine palmitoyl transferase deficiency type 2, lethal systemic form · Carnitine palmitoyl transferase deficiency type 2, neonatal form · Carnitine palmitoyl transferase II deficiency, lethal systemic form · CPT II deficiency, lethal neonatal · CPT2, lethal systemic form
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