Results 181 to 190 of about 14,507 (223)
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Differential Diagnosis of Tetrahydrobiopterin Deficiency
Journal of Inherited Metabolic Disease, 1985AbstractSix hundred and seventy‐three children (483 newborns and 190 older selected children) were screened for tetrahydrobiopterin (BH4) deficiency by HPLC of urine pterins and BH4 load test. One patient with GTP cyclohydrolase I deficiency, 36 patients with dihydrobiopterin synthetase (DHBS) deficiency (of which six were in the newborn and 30 in the ...
A, Niederwieser +2 more
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Maternal Phenylketonuria and Tetrahydrobiopterin
Pediatrics, 2008Untreated maternal phenylketonuria (PKU) results in a significant occurrence of microcephaly and congenital heart disease in the offspring. Before the documentation of this fact by Lenke and Levy1 in 1980, there was confusion as to the occurrence of these abnormalities.
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Tetrahydrobiopterin metabolism in the Rett disease
Brain and Development, 1985Tetrahydrobiopterin metabolism was studied in nine Swedish patients with the Rett disease. Normal values were found for the serum biopterin level, urine biopterins level and dihydropterine reductase activity. These findings suggest that a primary disturbance of tetrahydrobiopterin metabolism is unlikely.
A, Sahota +3 more
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Tetrahydrobiopterin induced neonatal tyrosinaemia
European Journal of Pediatrics, 1996Sir: Transient neonatal tyrosinaemia is thought to be caused by late maturation of the hepatic enzymes 4-hydroxyphenylpyruvate dioxygenase and tyrosine aminotransferase [4]. In addition to prematurity, high protein intake and ascorbate deficiency are suggested as risk factors [2].
N, Blau, M, Beck, D, Matern
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Neurological Involvement in Tetrahydrobiopterin Deficiency
Journal of Pediatric Biochemistry, 2016Tetrahydrobiopterin (BH4) is a natural and essential cofactor for the enzymatic hydroxylation of phenylalanine (Phe) and tyrosine (Tyr), and for two tryptophan hydroxylases, three nitric oxide synthases, and glyceryl-ether monooxygenase. Five separate genetic conditions affecting BH4 synthesis or recycling have been identified so far, including ...
Mascaro I +10 more
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Classifying tetrahydrobiopterin responsiveness in the hyperphenylalaninaemias
Journal of Inherited Metabolic Disease, 2008SummaryBackgroundA significant percentage of patients with hyperphenylalaninaemia (HPA) due to primary deficiency of the phenylalanine hydroxylase enzyme (PAH) respond to a dose of tetrahydrobiopterin (BH4) with an increased rate of phenylalanine (Phe) disposal. The effect is exploited therapeutically, with some patients on BH4 even tolerating a normal
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Tetrahydrobiopterin for patients with phenylketonuria
The Lancet, 2007Angel L, Pey, Aurora, Martinez
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