CARNITINE PALMITOYL TRANSFERASE DEFICIENCY (II), CPT2, LETHAL NEONATAL

Question 1

What is  CARNITINE PALMITOYL TRANSFERASE DEFICIENCY (II), CPT2, LETHAL NEONATAL?

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 608836

Question 3

Which enzymes are involved?

Accepted Answer

Carnitine O-palmitoyltransferase 2, mitochondrial

Disease	CARNITINE PALMITOYL TRANSFERASE DEFICIENCY (II), CPT2, LETHAL NEONATAL
Synonym	CPT2 DEFICIENCY, LETHAL NEONATAL
OMIM	608836 OMIM = Online Mendelian Inheritance of Men
Orphanet	228308
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) Bilirubin inc (serum) L-Carnitine dec (plasma) Long chain acyl carnitines inc (serum) Long chain dicarboxylic acids inc (urine)
Symptoms	apnea cardiac arrhythmia, dysrhythmia cardiomegaly cardiomyopathy cardiomyopathy, dilated cataract contractures, joints dysmorphism early death feeding difficulties, poor feeding hepatomegaly (large liver) hydronephrosis hyperammonemia hypoketotic hypoglycemia hypotonia liver involvement or dysfunction microcephaly (<2 SD for age) MRI, brain, abnormalities [-] oligohydramnion (maternal) onset, fetus onset, neonatal renal failure, acute/chronic respiratory distress respiratory insufficiency seizures