Hypothesis: A Role for Quinolinic Acid in the Neuropathology of Glutaric Aciduria Type I

Glutaric aciduria type I is an autosomal recessive metabolic disorder of children associated with severe dystonic motor disturbances and degeneration in the cerebral cortex, striatum and cerebellum. Biochemical studies demonstrate a deficiency in the enzyme glutaryl-CoA dehydrogenase. This enzyme me...

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Bibliographic Details
Published in:Canadian journal of neurological sciences 1987-08, Vol.14 (S3), p.441-443
Main Author: Heyes, Melvyn P.
Format: Article
Language:English
Subjects:
Brain Diseases - metabolism
Brain Diseases - physiopathology
Child
Glutarates - urine
Glutaryl-CoA Dehydrogenase
Humans
Neurotoxins - metabolism
Oxidoreductases - deficiency
Oxidoreductases Acting on CH-CH Group Donors
Pyridines - metabolism
Quinolinic Acid
Quinolinic Acids - metabolism
Quinolinic Acids - physiology
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Summary:Glutaric aciduria type I is an autosomal recessive metabolic disorder of children associated with severe dystonic motor disturbances and degeneration in the cerebral cortex, striatum and cerebellum. Biochemical studies demonstrate a deficiency in the enzyme glutaryl-CoA dehydrogenase. This enzyme metabolizes substrate derived from dietary tryptophan that could otherwise be converted to quinolinic acid within the brain. The law of mass action predicts that the production of quinolinic acid should be increased in glutaric aciduria type I. Quinolinic acid is a potent neurotoxin and convulsant when it is injected into the central nervous system of experimental animals. This paper argues that quinolinic acid may accumulate within the brain and cause the neuropathology of glutaric aciduria type I.
ISSN:0317-1671
2057-0155
DOI:10.1017/S0317167100037872