Hyperinsulinism-hyperammonemia syndrome
id:
hyperinsulinism-hyperammonemia-syndrome-278-17293069
title:
Hyperinsulinism-hyperammonemia syndrome
text:
Hyperinsulinism-hyperammonemia syndrome (HI/HA) is an autosomal dominant disorder that results in the excess production of insulin and ammonia in mammals. HI/HA is caused by increased Glutamate dehydrogenase 1 (GDH) activity due to the presence of overactivating point mutations in GDH. These point mutations either directly or indirectly prevent guanosine triphosphate (GTP) binding and inhibition of GDH, which causes GDH to uncontrollably remain active.
brand slug:
wiki
category slug:
encyclopedia
description:
Medical condition
original url:
https://en.wikipedia.org/wiki/Hyperinsulinism-hyperammonemia_syndrome
date created:
date modified:
2024-01-22T16:55:20Z
main entity:
{"identifier":"Q3508614","url":"https://www.wikidata.org/entity/Q3508614"}
image:
fields total:
13
integrity:
14