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disorders of glutamate metabolism

Monday 3 May 2004

Glutamate is a central junction for interchange of amino nitrogen, glutamate facilitates both amino acid synthesis and degradation.

- In the liver, glutamate is the terminus for release of ammonia from amino acids, and the intrahepatic concentration of glutamate modulates the rate of ammonia detoxification into urea.
- In pancreatic beta-cells, oxidation of glutamate mediates amino acid-stimulated insulin secretion.
- In the central nervous system, glutamate serves as an excitatory neurotransmittor. Glutamate is also the precursor of the inhibitory neurotransmittor GABA, as well as glutamine, a potential mediator of hyperammonemic neurotoxicity.

Pathology

- muttaions of the glutamate dehydrogenase in a form of congenital hyperinsulinism associated with asymptomatic hyperammonemia

- disruptions of glutamate metabolism

  • pyridoxine-dependent seizures

- missense mutation in the gene encoding one of the two mitochondrial glutamate/H(+) symporters in autosomal recessive neonatal myoclonic epilepsy (15592994)

Features

- glutamate oxidation

References

- - Kelly A, Li C, Gao Z, Stanley CA, Matschinsky FM. Glutaminolysis and insulin secretion: from bedside to bench and back. Diabetes. 2002 Dec;51 Suppl 3:S421-6. PMID: 12475785

- Kelly A, Stanley CA. Disorders of glutamate metabolism. Ment Retard Dev Disabil Res Rev. 2001;7(4):287-95. PMID: 11754524