Hyperinsulinism–hyperammonemia syndrome

Also known as: HI/HA syndrome

Hypoglycemia with mild hyperammonemia from activating glutamate dehydrogenase variants.

Medical specialty: Endocrinology
Subspecialty: Endocrinology / Pediatric endocrinology
Sex & age distribution: Male: affected; Female: affected equally; Children: yes, infancy
Gene(s) involved: GLUD1

Etiology & mechanism

GLUD1 gain of function.

Gene(s) involved (1)

GLUD1

Symptoms & signs (6)

developmental delayhyperammonemialeucine sensitivityprotein-induced hypoglycemiarecurrent hypoglycemiaseizures

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