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References OMIM Gene GeneReviews HGMD HGNC
last update : 18-01-2010
Symbol CPT2I
Location 1p32.3
Name CPT2 deficiency, infantile
Corresponding gene CPT2
Main clinical features
  • non ketotic hypoglycemia, liver failure, cardiomyopathy, peripheral myopathy in infant
  • neonatal form rapidly fatal, with lethargy, respiratory arrest, and seizures, mild hepatomegaly and cardiomegaly, as well as multiple cardiac arrhythmias and hypoketotic hypoglycemia, elevated liver enzymes, increased plasma creatine kinase, and low plasma carnitine (OMIM : 608836)
  • Genetic determination autosomal recessive
    Function/system disorder metabolism/organic acid
    Type disease