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GENATLAS PHENOTYPE

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

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