International database of tetrahydrobiopterin deficiencies
| Autor: | I. Barnes, Nenad Blau, J. L. Dhondt |
|---|---|
| Rok vydání: | 1995 |
| Předmět: |
medicine.medical_specialty
Pediatrics Phenylalanine Consanguinity GTP cyclohydrolase I deficiency Computer Communication Networks Neonatal Screening Hyperphenylalaninemia International database Terminology as Topic Internal medicine Genetics medicine Humans Dihydropteridine reductase activity Amino Acid Metabolism Inborn Errors Tetrahydrobiopterin deficiency Genetics (clinical) business.industry Data Collection Incidence (epidemiology) Infant Newborn Tetrahydrobiopterin medicine.disease Biopterin Pterins Endocrinology business Software medicine.drug |
| Zdroj: | Journal of Inherited Metabolic Disease. 19:8-14 |
| ISSN: | 1573-2665 0141-8955 |
| DOI: | 10.1007/bf01799342 |
| Popis: | Approximately 2% of newborns with hyperphenylalaninaemia are deficient in tetrahydrobiopterin. Selective screening must be performed in all instances where hyperphenylalaninaemia is detected by neonatal screening. In the last 20 years, 308 patients with tetrahydrobiopterin deficiencies have been recognized as a result of screening carried out, worldwide, in Departments of Paediatrics. Of these 308 patients, 181 suffered from 6-pyruvoyltetrahydropterin synthase deficiency, 92 from dihydropteridine reductase deficiency, 13 from pterin-4a-carbinolamine dehydratase deficiency, 12 from GTP cyclohydrolase I deficiency, and 10 are still unclassified. In the BIODEF database we have tabulated the most common clinical and laboratory data related to hyperphenylalaninaemia and tetrahydrobiopterin deficiencies. Additionally, there are data regarding treatment, outcome, and DNA analysis. Preliminary evaluation reveals that the degree of hyperphenylalaninaemia can vary from normal to 2500 mumol/L. Analyses of pterins in urine and measurement of dihydropteridine reductase activity from Guthrie cards are absolutely essential tests for accurate diagnosis. There is a regional (demographic) variation in the frequency of tetrahydrobiopterin deficiencies indicating the highest incidence in Saudi Arabia, probably a consequence of the high consanguinity rate. |
| Databáze: | OpenAIRE |
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