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Carnitine palmitoyl transferase II deficiency, neonatal form

Disease Export to PDF
Name:
Carnitine palmitoyl transferase II deficiency, neonatal form
Description:
The neonatal form of carnitine palmitoyltransferase II (CPT II) deficiency (see this term), 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.
ORPHAcode:
228308
Synonyms:
CPT2, lethal systemic form
CPT2, neonatal form
CPTII, lethal systemic form
CPTII, neonatal form
Carnitine palmitoyl transferase II deficiency, lethal systemic form
Carnitine palmitoyl transferase deficiency type 2, lethal systemic form
Carnitine palmitoyl transferase deficiency type 2, neonatal form
XREF(s):
Orphanet
ICD-10
OMIM
Analyte(s):
CPT2
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14