Glutaric aciduria; a "new" disorder of amino acid metabolism.
摘要：
Studies are reported on two siblings with a neurodegenerative disorder, glutaric aciduria and glutaric acidemia. The glutaric aciduria was increased by oral administration of l-lysine, which is metabolized through glutaryl-CoA, and decreased by lowering protein intake. The metabolism of [1,5- 14C] glutaryl-CoA was deficient in the peripheral leukocytes of the patients. The results are compatible with an inherited deficiency of glutaryl-CoA dehydrogenase. It is speculated, but not proved, that the biochemical abnormality is causally related to the central nervous system dysfunction.
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关键词：
Humans Leukocytes Amino Acid Metabolism, Inborn Errors Glutarates Coenzyme A Oxidoreductases Dietary Proteins Child, Preschool Infant Female
DOI：
10.1016/0006-2944(75)90091-5
被引量：
年份：
1975
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