Tetrahydrobiopterin therapy of atypical phenylketonuria due to defective dihydrobiopterin biosynthesis
| Autor: | S Däumling, Curtius Hc, M Viscontini, J. Schaub, B Schircks, K Bartholomé, J H Bieri, A Niederwieser |
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| Rok vydání: | 1978 |
| Předmět: |
medicine.medical_specialty
Muscle Hypotonia Phenylketonurias Phenylalanine Biopterin chemistry.chemical_compound Dihydrobiopterin Internal medicine medicine Humans medicine.diagnostic_test business.industry Pteridines Infant Tetrahydrobiopterin Ascorbic acid Endocrinology chemistry Liver biopsy Pediatrics Perinatology and Child Health Female business Research Article medicine.drug |
| Zdroj: | Archives of Disease in Childhood. 53:674-676 |
| ISSN: | 1468-2044 0003-9888 |
| DOI: | 10.1136/adc.53.8.674 |
| Popis: | A patient with atypical phenylketonuria (defective BH2 synthesis), detected at age 6 months because of severe muscle hypotonia and serum phenylalanine of 20 mg/100 ml, had normal activities of phenylalanine-4-hydroxylase and DHPR in liver biopsy, but only 2% activity in the phenylalanine-4-hyroxylase in vivo test using deuterated phenylalanine. After IV administration of 2.5 mg/kg chemically pure tetrahydrobiopterin bishydrochloride (BH4 . 2HCl), serum phenylalanine decreased from 20.4 to 2.1 mg/100 ml within 3 hours. Administration of 25 mg BH4 . HCl and 100 mg ascorbic acid through a gastric tube decrease; serum phenylalanine from 13.7 to less than 1.6 mg/100 ml within 3 hours and it remained less than 2 mg/100 ml for 2 days. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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