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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
General
genetic syndrome (multisystem disorder)
genetic disease of the endocrine system
Database Correlations
OMIM 606762
References
OMIM :accession 606762