Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Glutamate dehydrogenase 1

The gene encodes a mitochondrial enzyme that plays an important role in nitrate metabolism. Loss-of-function mutations cause hyperinsulinemic hypoglycemia that is inherited in an autosomal dominant pattern.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Hyperinsulinemic hypoglycemia 6
GLUD1

References:

1.

Thornton PS et al. (1998) Familial hyperinsulinism with apparent autosomal dominant inheritance: clinical and genetic differences from the autosomal recessive variant.

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2.

Miki Y et al. (2000) Novel missense mutations in the glutamate dehydrogenase gene in the congenital hyperinsulinism-hyperammonemia syndrome.

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3.

Santer R et al. (2001) Novel missense mutations outside the allosteric domain of glutamate dehydrogenase are prevalent in European patients with the congenital hyperinsulinism-hyperammonemia syndrome.

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4.

Stanley CA et al. (1998) Hyperinsulinism and hyperammonemia in infants with regulatory mutations of the glutamate dehydrogenase gene.

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5.

Glaser B et al. (1998) Clinical and molecular heterogeneity of familial hyperinsulinism.

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6.

Kapoor RR et al. (2009) Advances in the diagnosis and management of hyperinsulinemic hypoglycemia.

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7.

Smith TJ et al. (2001) Structures of bovine glutamate dehydrogenase complexes elucidate the mechanism of purine regulation.

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8.

Plaitakis A et al. (2001) Regulation of human glutamate dehydrogenases: implications for glutamate, ammonia and energy metabolism in brain.

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9.

Kaczirek K et al. (2004) Nesidioblastosis: an old term and a new understanding.

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10.

de Lonlay P et al. (2005) Dominantly inherited hyperinsulinaemic hypoglycaemia.

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11.

None (2007) Insights in congenital hyperinsulinism.

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12.

Tzimagiorgis G et al. (1991) Chromosomal mapping of glutamate dehydrogenase gene sequences to mouse chromosomes 7 and 14.

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13.

Shaughnessy J et al. (1989) A restriction fragment length polymorphism at murine Glud locus co-segregates with Rib-1, Es-10, and Tcra on chromosome 14.

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14.

Jung KY et al. (1989) Assignment of the GDH loci to human chromosomes 10q23 and Xq24 by in situ hybridization.

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15.

Hanauer A et al. (1987) Presence of a TaqI polymorphism in the human glutamate dehydrogenase (GLUD) gene on chromosome 10.

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16.

Mavrothalassitis G et al. (1988) Isolation and characterization of cDNA clones encoding human liver glutamate dehydrogenase: evidence for a small gene family.

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17.

Nakatani Y et al. (1988) Complete nucleotide sequence of human glutamate dehydrogenase cDNA.

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18.

Colon AD et al. (1986) Purification and characterization of a soluble and a particulate glutamate dehydrogenase from rat brain.

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19.

Sorbi S et al. (1986) Abnormal platelet glutamate dehydrogenase activity and activation in dominant and nondominant olivopontocerebellar atrophy.

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20.

Plaitakis A et al. (1982) Abnormal glutamate metabolism in an adult-onset degenerative neurological disorder.

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21.

Duvoisin RC et al. (1983) Glutamate dehydrogenase deficiency in patients with olivopontocerebellar atrophy.

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22.

Plaitakis A et al. (1984) Neurological disorders associated with deficiency of glutamate dehydrogenase.

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23.

Yamaguchi T et al. (1982) Glutamate dehydrogenase deficiency in spinocerebellar degenerations.

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24.

Barbeau A et al. (1980) Leucocyte glutamate dehydrogenase in various hereditary ataxias.

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25.

Plaitakis A et al. (1980) Glutamate dehydrogenase deficiency in three patients with spinocerebellar syndrome.

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26.

Deloukas P et al. (1993) Three human glutamate dehydrogenase genes (GLUD1, GLUDP2, and GLUDP3) are located on chromosome 10q, but are not closely physically linked.

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27.

Tzimagiorgis G et al. (1993) Structure and expression analysis of a member of the human glutamate dehydrogenase (GLUD) gene family mapped to chromosome 10p11.2.

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28.

Michaelidis TM et al. (1993) The human glutamate dehydrogenase gene family: gene organization and structural characterization.

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29.

Nelson RL et al. (1977) Electrophoresis of human l-glutamate dehydrogenase: tissue distribution and preliminary population survey.

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30.

NCBI article

NCBI 2746 [^]
31.

OMIM.ORG article

Omim 138130 [^]
32.

Orphanet article

Orphanet ID 122188 [^]
33.

Wikipedia article

Wikipedia EN (Glutamate_dehydrogenase_1) [^]
Update: April 29, 2019