Atypical phenylketonuria caused by 7, 8-dihydrobiopterin synthetase deficiency
| Autor: | A, Niederwieser, H C, Curtius, O, Bettoni, J, Bieri, B, Schircks, M, Viscontini, J, Schaub |
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| Rok vydání: | 1979 |
| Předmět: |
medicine.medical_specialty
Phenylalanine Biopterin Urine chemistry.chemical_compound Oral administration Dihydrobiopterin Internal medicine Phenylketonurias Medicine Humans Dihydrobiopterin synthetase business.industry Pteridines Neopterin General Medicine Dihydropteridine Reductase Pterins Alcohol Oxidoreductases Endocrinology chemistry Child Preschool Atypical phenylketonuria Female Guanosine Triphosphate business |
| Zdroj: | Lancet (London, England). 1(8108) |
| ISSN: | 0140-6736 |
| Popis: | A patient with atypical phenylketonuria and normal liver dihydropteridine reductase and phenylalanine-4-hydroxylase activities excreted neopterin but not biopterin or dihydrobiopterin in urine. The oral administration of L-sepiapterin (1 mg/kg body weight) lowered serum-phenylalanine from 17·1 to 1·1 mg/dl within 6 h. Comparable responses were observed after oral administration of L-erythro-7, 8-dihydrobiopterin or L-erythro-5, 6, 7, 8-tetrahydrobiopterin (each given in a dose of 2·5 mg/kg body weight). The results indicate a 7, 8-dihydrobiopterin synthetase deficiency in the patient. |
| Databáze: | OpenAIRE |
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