TY - JOUR
T1 - Dihydropteridine Reductase Deficiency in Man
T2 - From Biology to Treatment
AU - Ponzone, Alberto
AU - Spada, Marco
AU - Ferraris, Silvio
AU - Dianzani, Irma
AU - De Sanctis, Luisa
PY - 2004/3
Y1 - 2004/3
N2 - In 1975, dihydropteridine reductase (DHPR) deficiency was first recognized as a cause of tetrahydrobiopterin (BH4) 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.
AB - In 1975, dihydropteridine reductase (DHPR) deficiency was first recognized as a cause of tetrahydrobiopterin (BH4) 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.
KW - Biogenic amine deficiency
KW - Hyperphenylalaninemia
KW - Neonatal screening
KW - Tetrahydrobiopterin deficiency
UR - http://www.scopus.com/inward/record.url?scp=1242292437&partnerID=8YFLogxK
U2 - 10.1002/med.10055
DO - 10.1002/med.10055
M3 - Review article
SN - 0198-6325
VL - 24
SP - 127
EP - 150
JO - Medicinal Research Reviews
JF - Medicinal Research Reviews
IS - 2
ER -