familial hyperinsulinemic hypoglycemia 4

Term ID

DOID:0070215

Synonyms

• HHF4
• hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
• hyperinsulinism due to glutamodehydrogenase deficiency
• hyperinsulinism due to SCHAD deficiency
• hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency

Definition

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. https://www.ncbi.nlm.nih.gov/pubmed/11489939

References

• GARD:2819
• MIM:609975
• ORDO:71212

Ontology

Human Disease   ( DOID:0070215 )