A Case of Dihydropteridine Reductase Deficiency

A Case of Dihydropteridine Reductase Deficiency

Tetrahydrobiopterin (BH4) is the essential cofacter of phenylalanine (Phe), tyrosine (Tyr), and tryptophan (Trp) hydroxylases . BH4 deficiency, a rare but severe type of hyperphenylalaninemia, is characterized by progressive neurologic symptoms despite early detection and treatment with a Phe-restri...

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Bibliographic Details
Main Authors: Furujo Mahoko, Ichiba Yozo, Sintaku Haruo, Asada Minoru
Format: Article
Language:English
Published: De Gruyter 2000-11-01
Series:Pteridines
Subjects:
tetrahydrobiopterin(bh4) loading test
dihydropteridine reductase (dhpr)
hyperprolactinemia
neurotransmitter precursor
homovanillic acid (hva)
5-hydroxyindole acetic acid (5hiaa)
5- hydroxy tryptophan (5-htp)
quinonoid dihydrobiopterin (qbh2)' phenylketonuria (pku)
Online Access:https://doi.org/10.1515/pteridines.2000.11.4.126

Internet

https://doi.org/10.1515/pteridines.2000.11.4.126

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