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Summary
CARNITINE PALMITOYL TRANSFERASE DEFICIENCY (II), CPT2, LETHAL NEONATAL
CPT2 DEFICIENCY, LETHAL NEONATAL
608836
OMIM = Online Medalian Inheritance of Men
228308
1p32.3
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
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)
oligohydramnion (maternal)
onset, fetus
onset, neonatal
renal failure, acute/chronic
respiratory distress
respiratory insufficiency
seizures
laboratory finding
MRI, brain, abnormalities -
Bilirubin +€mol/lserum
Ammonia +€mol/lblood
L-Carnitine +€mol/lplasma
Long chain dicarboxylic acids mmol/mol creatinineurine
Long chain acyl carnitines +€mol/lserum
Literature
Radke J,Stenzel W, Goebel HHHuman NCL NeuropathologyBiochim Biophys Acta1852102262-22662015
Kasapkara CS,et al.The variable clinical phenotype of three patients with hepatic glycogen synthase deficiencyJ Pediatr Endocrinol Metab304459-4622017