Maximal dietary responsiveness after tetrahydrobiopterin (BH4) in 19 phenylalanine hydroxylase deficiency patients: What super-responders can expect

Maximal dietary responsiveness after tetrahydrobiopterin (BH4) in 19 phenylalanine hydroxylase deficiency patients: What super-responders can expect

Background: Inherited phenylalanine hydroxylase deficiency, also known as phenylketonuria (PKU), causes poor growth and neurologic deficits in the untreated state. After ascertainment through newborn screen and dietary phenylalanine (Phe) restriction to achieve plasma Phe in the range of 120–360 μmo...

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Bibliographic Details
Main Authors: Jariya Upadia, Kea Crivelly, Grace Noh, Amy Cunningham, Caroline Cerminaro, Yuwen Li, Meredith Mckoin, Madeline Chenevert, Hans C. Andersson
Format: Article
Language:English
Published: Elsevier 2024-03-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
Phenylketonuria
Tetrahydrobiopterin
Online Access:http://www.sciencedirect.com/science/article/pii/S221442692400003X

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http://www.sciencedirect.com/science/article/pii/S221442692400003X

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