CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, CPT2, INFANTILE

Question 1

What is  CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, CPT2, INFANTILE?

Accepted Answer

rare

autosomal recessive

mutation in the CPT2 gene
Three phenotypes of CPT II deficiency:
- lethal neonatal form -> 600649
- severe infantile hepatocardiomuscular form -> 608836
- mild myopathic form (most frequent) -> 255110

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 600649

Question 3

Which enzymes are involved?

Accepted Answer

Carnitine O-palmitoyltransferase 2, mitochondrial

Disease	CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, CPT2, INFANTILE
Synonym	CPT2 DEFICIENCY, INFANTILE
OMIM	600649 OMIM = Online Mendelian Inheritance of Men
Orphanet	228305
Protein (UniProt)	Carnitine O-palmitoyltransferase 2, mitochondrial
Gene locus	1p32.3
ICD	E71.3
Summary	rare autosomal recessive mutation in the CPT2 gene Three phenotypes of CPT II deficiency: - lethal neonatal form -> 600649 - severe infantile hepatocardiomuscular form -> 608836 - mild myopathic form (most frequent) -> 255110
Laboratory findings	Ammonia inc (blood) Creatine kinase inc (serum) D-Glucose dec (serum)
Symptoms	cardiomegaly cardiomyopathy cardiomyopathy, dilated hepatomegaly (large liver) hyperammonemia hypoketotic hypoglycemia lethargy, drowsiness, apathy onset, infancy seizures vomiting