Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
Congenital hyperinsulinism classification
Introduction
Overview
Overview
Classification
Classification
- Transient neonatal hyperinsulinism
- Focal hyperinsulinism
- Diffuse hyperinsulinism
- Autosomal recessive forms
- SUR1 mutations
- Kir6.2 mutations
- Autosomal dominant forms
- Glucokinase gain-of-function mutations
- Hyperammonemic hyperinsulinism (glutamate dehydrogenase gain-of-function mutations)
- Short chain acyl coenzyme A dehydrogenase deficiency
- Carbohydrate-deficient glycoprotein syndrome
- Autosomal recessive forms
- Beckwith-Wiedemann syndrome (thought to be due to hyperinsulinism but pathophysiology still uncertain: 11p15 mutation or IGF2 excess)
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Cafer Zorkun, M.D., Ph.D. [2]