Hyperinsulinism-hyperammonemia syndrome

Hyperinsulinism-hyperammonemia syndrome
Other names	HI/HA or HHS

Hyperinsulinism-hyperammonemia syndrome (HI/HA) is an autosomal dominant disorder that results in the excess production of insulin and ammonia in mammals.[1] 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.[2]

References

Pinney, SE; MacMullen, C; Becker, S; Lin, YW; Hanna, C; Thornton, P; Ganguly, A; Shyng, SL; Stanley, CA (August 2008). "Clinical characteristics and biochemical mechanisms of congenital hyperinsulinism associated with dominant KATP channel mutations". The Journal of Clinical Investigation. 118 (8): 2877–86. doi:10.1172/JCI35414. PMC 2441858. PMID 18596924.
Smith, Hong Q.; Smith, Thomas J. (2016). "Identification of a Novel Activator of Mammalian Glutamate Dehydrogenase". Biochemistry. 55 (47): 6568–6576. doi:10.1021/acs.biochem.6b00979. PMID 27808506.

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[1] Pinney, SE; MacMullen, C; Becker, S; Lin, YW; Hanna, C; Thornton, P; Ganguly, A; Shyng, SL; Stanley, CA (August 2008). "Clinical characteristics and biochemical mechanisms of congenital hyperinsulinism associated with dominant KATP channel mutations". The Journal of Clinical Investigation. 118 (8): 2877–86. doi:10.1172/JCI35414. PMC 2441858. PMID 18596924.

[2] Smith, Hong Q.; Smith, Thomas J. (2016). "Identification of a Novel Activator of Mammalian Glutamate Dehydrogenase". Biochemistry. 55 (47): 6568–6576. doi:10.1021/acs.biochem.6b00979. PMID 27808506.