Glutaric aciduria; A 'new' disorder of amino acid metabolism
| Autor: | Cecilia C. Teng, Barbara S. Miles, Sanford P. Markey, Paul G. Moe, Stephen I. Goodman |
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| Rok vydání: | 1975 |
| Předmět: |
Male
congenital hereditary and neonatal diseases and abnormalities medicine.medical_specialty Coenzyme A Glutaryl-CoA dehydrogenase Glutaric aciduria type 1 Biochemistry Glutarates chemistry.chemical_compound Oral administration Internal medicine Leukocytes medicine Humans Amino Acid Metabolism Inborn Errors Chemistry Glutaric aciduria Infant nutritional and metabolic diseases Metabolism medicine.disease Endocrinology Child Preschool Glutaric acidemia Female Dietary Proteins Oxidoreductases Glutaric Acidemia Type 1 |
| Zdroj: | Biochemical Medicine. 12:12-21 |
| ISSN: | 0006-2944 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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