Protein Variants | Comment | Organism |
---|---|---|
G446C | a one-month-old boy with a rare form of congenital hyperinsulinism characterised by hypoglycaemia and hyperammonaemia is described. The patient is heterozygous for a novel de novo mutation in the GLUD1 gene in exon 11 of chromosome 10, which encodes glutamate dehydrogenase (GDH). This point mutation alters the corresponding guanine-guanine-thymine (GGT) codon to thymine-guaninethymine (TGT), changing the glycine at position 446 to cysteine (Gly446Cys), which is located on the allosteric domain of the enzyme. The result confirmed the diagnosis of hyperinsulinism and hyperammonaemia syndrome. The patient is treated with diazoxide (12 mg/kg/day) and the glucose infusion is gradually decreased over four days. Blood glucose is maintained around 4 mmol/l. However, the infants ammonia level remain above 120 mmol/l | Homo sapiens |
Organism | UniProt | Comment | Textmining |
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Homo sapiens | - |
- |
- |
Synonyms | Comment | Organism |
---|---|---|
glutamate dehydrogenase 1 | - |
Homo sapiens |
Cofactor | Comment | Organism | Structure |
---|---|---|---|
additional information | cofactor not mentioned | Homo sapiens |