Late-onset symptomatic hyperprolactinemia in 6-pyruvoyl-tetrahydropterin synthase deficiency

Late-onset symptomatic hyperprolactinemia in 6-pyruvoyl-tetrahydropterin synthase deficiency

Abstract Background Tetrahydrobiopterin (BH4) deficiency caused by 6-pyruvoyl-tetrahydropterin synthase (PTPS) deficiency is a rare disorder that is one of the major causes of hyperphenylalaninemia in Taiwan. Methods In this study, we reviewed the clinical courses of 12 adolescent and adult patients...

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Bibliographic Details
Main Authors: Rai-Hseng Hsu, Ni-Chung Lee, Hui-An Chen, Wuh-Liang Hwu, Tung-Ming Chang, Yin-Hsiu Chien
Format: Article
Language:English
Published: BMC 2023-11-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Tetrahydrobiopterin deficiency
BH4
6-Pyruvoyl-tetrahydropterin synthase deficiency
PTPS
Hyperphenylalaninemia
Hyperprolactinemia
Online Access:https://doi.org/10.1186/s13023-023-02963-4

Internet

https://doi.org/10.1186/s13023-023-02963-4

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