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Tetrahydrobiopterin and inherited hyperphenylalaninemias.
Turk J Pediatr. 1996 Jan-Mar; 38(1):19-35.TJ

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.

Authors+Show Affiliations

Department of Pediatrics, University of Zurich, Switzerland.No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't
Review

Language

eng

PubMed ID

8819618

Citation

Blau, N, et al. "Tetrahydrobiopterin and Inherited Hyperphenylalaninemias." The Turkish Journal of Pediatrics, vol. 38, no. 1, 1996, pp. 19-35.
Blau N, Thony B, Spada M, et al. Tetrahydrobiopterin and inherited hyperphenylalaninemias. Turk J Pediatr. 1996;38(1):19-35.
Blau, N., Thony, B., Spada, M., & Ponzone, A. (1996). Tetrahydrobiopterin and inherited hyperphenylalaninemias. The Turkish Journal of Pediatrics, 38(1), 19-35.
Blau N, et al. Tetrahydrobiopterin and Inherited Hyperphenylalaninemias. Turk J Pediatr. 1996 Jan-Mar;38(1):19-35. PubMed PMID: 8819618.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Tetrahydrobiopterin and inherited hyperphenylalaninemias. AU - Blau,N, AU - Thony,B, AU - Spada,M, AU - Ponzone,A, PY - 1996/1/1/pubmed PY - 1996/1/1/medline PY - 1996/1/1/entrez SP - 19 EP - 35 JF - The Turkish journal of pediatrics JO - Turk J Pediatr VL - 38 IS - 1 N2 - 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. SN - 0041-4301 UR - https://wwww.unboundmedicine.com/medline/citation/8819618/Tetrahydrobiopterin_and_inherited_hyperphenylalaninemias_ DB - PRIME DP - Unbound Medicine ER -