Conditions / Genetic
familial hyperinsulinemic hypoglycemia 4
info · Genetic
A hyperinsulinemic hypoglycemia characterized by autosomal recessive inheritance of hyperinsulinemic hypoglycemia with seizures that has_material_basis_in mutation in the HADH gene on chromosome 4q25.
Signs and symptoms
- Feeding difficulties
- Hyperinsulinemic hypoglycemia
- Hypoglycemic seizures
- Hypotonia
- Intellectual disability
- Hypoglycemic coma
Also known as: HHF4; hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency; hyperinsulinism due to SCHAD deficiency; hyperinsulinism due to glutamodehydrogenase deficiency; hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency