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7,8-dihydrobiopterin synthetase

Known as: L-erythro-7,8-dihydrobiopterin synthetase, dihydrobiopterin synthetase 
 
National Institutes of Health

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Alcohol Oxidoreductases

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2005
2005
Differential diagnosis of tetrahydrobiopterin deficiency
Six hundred and seventy-three children (483 newborns and 190 older selected children) were screened for tetrahydrobiopterin (BH4… Expand
  • figure 1
  • table I
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2005
2005
Normal pterin values in urine and serum in neonates and its age-related change throughout life
Tetrahydrobiopterin (BH4) deficiency has been described as a form of hyperphenylalaninaemia in which severe neurological symptoms… Expand
  • table 1
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2005
2005
Phenylketonuria due to dihydropteridine reductase deficiency: Presentation of two cases
1-3 % of all hyperphenylalaninaemias are due to an impairment of the metabolism of tetrahydrobiopterin (BH4), the cofactor of the… Expand
  • figure 1
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2005
2005
Atypical phenylketonuria with mild mental retardation caused by tetrahydrobiopterin deficiency in a Chinese family
Tetrahydrobiopterin (BH4) is the cofactor for aromatic amino acid hydroxylases, including phenylalanine hydroxylase (EC 1.14.16.1… Expand
  • table 1
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2004
2004
Biopterin: IV. Regional and subcellular aspects ofl-erythro-7,8-dihydrobiopterin synthesis in brain
L-Erythro-7,8-dihydrobiopterin (BH2) is synthesized from GTP in the mammalian brain by a series of enzyme-catalyzed reactions (1… Expand
  • table V
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1992
1992
[Atypical form of phenylketonuria caused by lack of dihydrobiopterin synthetase activity].
A case of non-typical phenylketonuria produced by the inactivity of dihydrobiopterin synthetases is presented. Dihydrobiopterin… Expand
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1986
1986
Prenatal diagnosis of “dihydrobiopterin synthetase” deficiency, a variant form of phenylketonuria
Amniocentesis was performed at 19 weeks gestation in a mother who had previously delivered a boy with “dihydrobiopterin… Expand
  • table 1
  • table 2
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1985
1985
Atypical phenylketonuria with “dihydrobiopterin synthetase” deficiency: Absence of phosphate-eliminating enzyme activity demonstrated in liver
An assay for the phosphate-eliminating enzyme (PEE) activity in liver was developed which required only 5–10 mg tissue. PEE… Expand
  • figure 1
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1980
1980
Excretion of pterins in phenylketonuria and phenylketonuria variants.
Total urinary biopterin (B), neopterin (Ne) and monapterin (M) were measured in 25 healthy newborns, children and adults, in 49… Expand
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