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Summary
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, CPT2, INFANTILE
CPT2 DEFICIENCY, INFANTILE
600649
OMIM = Online Medalian Inheritance of Men
228305
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
cardiomegaly
cardiomyopathy
cardiomyopathy, dilated
hepatomegaly (large liver)
hyperammonemia
hypoketotic hypoglycemia
lethargy, drowsiness, malaise or sleep disorder
onset, infancy
seizures
vomiting
laboratory finding
D-Glucose mmol/lserum
Creatine kinase U/lserum
Ammonia +€mol/lblood
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