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Pathway Description
Hyperinsulinism-Hyperammonemia Syndrome
Homo sapiens
Disease Pathway
Created: 2013-08-01
Last Updated: 2022-12-14
Hyperinsulinism-hyperammonemia syndrome (HHS; Glutamate dehydrogenase 1; GLUD1), an inherited condition, is caused by a defect in the GLUD1 gene which codes for mitochondrial glutamate dehydrogenase 1. It is a mitochondrial matrix enzyme, with a key role in the nitrogen and glutamate (Glu) metabolism and the energy homeostasis. An excessive activity of this enzyme results in high insulin and ammonia levels in blood; decrease level of glucose in blood. Symptoms and signs include shakiness, weakness, seizure, rapid pulse and confusion. Maintain normoglycemia is essencial to prevent neurologic damage. Some medications can be used to suppress insulin secretion.
References
Hyperinsulinism-Hyperammonemia Syndrome References
[Uniprot: P00367](http://www.uniprot.org/uniprot/P00367)
[OMIM: Entry 606762](http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606762)
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Glutamate Metabolism References
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Pubmed: 14702039
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Pubmed: 12444921
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