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Carnitine palmitoyl transferase II deficiency, severe infantile form

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Name:
Carnitine palmitoyl transferase II deficiency, severe infantile form
Description:
The severe infantile 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 early-onset form of the disease.
ORPHAcode:
228305
Synonyms:
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
XREF(s):
Orphanet
ICD-10
OMIM
Analyte(s):
CPT2
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14