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Literature summary for 1.4.1.3 extracted from

  • Chik, K.K.; Chan, C.W.; Lam, C.W.; Ng, K.L.
    Hyperinsulinism and hyperammonaemia syndrome due to a novel missense mutation in the allosteric domain of the glutamate dehydrogenase 1 gene (2008), J. Paediatr. Child Health, 44, 517-519.
    View publication on PubMed

Protein Variants

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 infant’s ammonia level remain above 120 mmol/l Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens
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-
-

Synonyms

Synonyms Comment Organism
glutamate dehydrogenase 1
-
Homo sapiens

Cofactor

Cofactor Comment Organism Structure
additional information cofactor not mentioned Homo sapiens