Tetrahydrobiopterin and inherited hyperphenylalaninemias

Nenad Blau, Beat Thöny, Marco Spada, Alberto Ponzone

Research output: Contribution to journalArticle

Abstract

Tetrahydrobiopterin deficiency, a variant of hyperphenylalaninemia, may be caused by deficiency of one of the following enzymes: guanosine triphosphate cyclohydrolase 1, 6-pyruvoyltetrahydropterin synthase, dihydropteridin reductase and pterin-4a-carbinolamine dehydratase. The first two enzymes are involved in the biosynthesis of tetrahydrobiopterin, the last two in its regeneration. Although these diseases are rare, early detection by selective screening is essential for the treatment and outcome. Tetrahydrobiopterin deficiencies are very heterogenous ranging from mild forms requiring only marginal if any treatment to severe forms which are in some cases very difficult to treat All variants of tetrahydrobiopterin deficiency can be differentiated from the classical phenylketonuria (PKU) by measurement of pterin metabolites in patients' urine, tetrahydrobiopterin loading test, and by dihydropteridine reductase activity in erythrocytes from the Guthrie card.

Original languageEnglish
Pages (from-to)19-35
Number of pages17
JournalTurkish Journal of Pediatrics
Volume38
Issue number1
Publication statusPublished - 1996

Fingerprint

Phenylketonurias
pterin-4a-carbinolamine dehydratase
Dihydropteridine Reductase
Pterins
Enzymes
Guanosine Triphosphate
Regeneration
Early Diagnosis
Oxidoreductases
Erythrocytes
sapropterin
Urine

Keywords

  • Biopterin
  • Genetics
  • Hyperphenylalaninemia
  • Neonatal screening
  • Neopterin
  • Phenylalanine
  • Phenylketonuria
  • Tetrahydrobiopterin

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

Tetrahydrobiopterin and inherited hyperphenylalaninemias. / Blau, Nenad; Thöny, Beat; Spada, Marco; Ponzone, Alberto.

In: Turkish Journal of Pediatrics, Vol. 38, No. 1, 1996, p. 19-35.

Research output: Contribution to journalArticle

Blau, N, Thöny, B, Spada, M & Ponzone, A 1996, 'Tetrahydrobiopterin and inherited hyperphenylalaninemias', Turkish Journal of Pediatrics, vol. 38, no. 1, pp. 19-35.
Blau, Nenad ; Thöny, Beat ; Spada, Marco ; Ponzone, Alberto. / Tetrahydrobiopterin and inherited hyperphenylalaninemias. In: Turkish Journal of Pediatrics. 1996 ; Vol. 38, No. 1. pp. 19-35.
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