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GENATLAS PHENOTYPE
last update : 29/09/06
Symbol HHF4
Location 4q23
Name hyperinsulinemic hypoglycemia, familial, 4
Corresponding gene HADH
Main clinical features
  • profound hypoglycemia at birth, with abnormally high insulin/glucose ratios with prolonged hypoglycemic convulsion resulting in coma . biochemical studies indicated increased blood acylcarnitine levels, suggesting a disorder of fatty acid oxidation
  • Genetic determination autosomal recessive
    Function/system disorder metabolism/aminoacids
    Type disease