hyperinsulinism-hyperammonemia syndrome

Pathology

• elevated oxidation rate of glutamate to alpha-ketoglutarate stimulates insulin secretion in the pancreatic beta cells, & impairs detoxification of ammonia in the liver

Genetics

• associated with defects in GLUD1

More general terms

• genetic syndrome (multisystem disorder)
• genetic disease of the endocrine system

Database

• OMIM: https://mirror.omim.org/entry/606762