Endocrinology · Endocrinology / Pediatric endocrinology
Hyperinsulinism–hyperammonemia syndrome
also: HI/HA syndrome
Hypoglycemia with mild hyperammonemia from activating glutamate dehydrogenase variants.
- Specialty
- Endocrinology
- Subspecialty
- Endocrinology / Pediatric endocrinology
- Sex & age distribution
- Male: affected; Female: affected equally; Children: yes, infancy
- Gene(s) involved
- GLUD1
- Alternative names & eponyms
- HI/HA syndrome
Etiology & mechanism
GLUD1 gain of function.
Gene(s) involved (1)
Symptoms & signs (6)
In plain terms, someone with Hyperinsulinism–hyperammonemia syndrome may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
Drag nodes, scroll to zoom, click a node to open that syndrome.
Shares symptoms with
2 shared
Folate malabsorption syndrome
developmental delay, seizures
2 shared
Galloway–Mowat syndrome
developmental delay, seizures
2 shared
NARP syndrome
developmental delay, seizures
2 shared
Sotos syndrome
developmental delay, seizures
2 shared
Sturge–Weber syndrome
developmental delay, seizures
2 shared
Timothy syndrome
developmental delay, seizures
2 shared
Triple H syndrome
developmental delay, hyperammonemia
1 shared
Action myoclonus–renal failure syndrome
seizures
1 shared
Aicardi syndrome
developmental delay
1 shared
Alcohol withdrawal syndrome
seizures
Shares genes with
None.
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