The BIODEF database 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.
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. The BIODEF database 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.
The BIODEF database allows users to search for information by selecting one of the following filters:
-Type of BH4 deficiency (e.g. GTPCH, PTPS, PCD or DHPR)
-Subtype (e.g. severe/typical, intermediate, or mild/atypical form)
-Country (country codes - see below)
-Extended search (clinical signs and symptoms)
Sponsors: This website is supported by Biomarin
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ethnic, frequency, 6-pyruvoyltetrahydropterin synthase deficiency, analysis, bh4, clinical, deficiency, demographic, diagnosis, dihydropteridine reductase deficiency, dna, gtp cyclohydrolase i deficiency, hyperphenylalaninaemia, measurement, neonatal, origin, outcome, pterin, pterin-4a-carbinolamine dehydratase deficiency, sex, tetrahydrobiopterin, treatment, urine
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Created 4 years ago by Anonymous