In 1975, dihydropteridine reductase (DHPR) deficiency was first recognized as a cause of tetrahydrobiopterin (BH(4)) deficiency, leading to hyperphenylalaninemia (HPA) and impaired biogenic amine deficiency. So far, more than 150 patients scattered worldwide have been reported and major progresses have been made in the understanding of physiopathology, screening, diagnosis, treatment, and molecular genetics of this inherited disease. Present knowledge on different aspects of DHPR deficiency, largely derived from authors' personal experience, is traced in this article. Copyright 2003 Wiley Periodicals, Inc.

Dihydropteridine reductase deficiency in man: from biology to treatment.

PONZONE, Alberto;DE SANCTIS, Luisa
2004

Abstract

In 1975, dihydropteridine reductase (DHPR) deficiency was first recognized as a cause of tetrahydrobiopterin (BH(4)) deficiency, leading to hyperphenylalaninemia (HPA) and impaired biogenic amine deficiency. So far, more than 150 patients scattered worldwide have been reported and major progresses have been made in the understanding of physiopathology, screening, diagnosis, treatment, and molecular genetics of this inherited disease. Present knowledge on different aspects of DHPR deficiency, largely derived from authors' personal experience, is traced in this article. Copyright 2003 Wiley Periodicals, Inc.
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tetrahydrobiopterin deficiency; neonatal screening; hyperphenylalaninemia; biogenic amine deficiency
Ponzone A; Spada M; Ferraris S; Dianzani I; de Sanctis L.
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/2318/8424
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