Birth prevalence of phenylalanine hydroxylase deficiency: a systematic literature review and meta-analysis

Birth prevalence of phenylalanine hydroxylase deficiency: a systematic literature review and meta-analysis

Abstract Background Phenylalanine hydroxylase (PAH) deficiency is an autosomal recessive disorder that results in elevated concentrations of phenylalanine (Phe) in the blood. If left untreated, the accumulation of Phe can result in profound neurocognitive disability. The objective of this systematic...

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Bibliographic Details
Main Authors: Pamela K. Foreman, Andrea V. Margulis, Kimberly Alexander, Renee Shediac, Brian Calingaert, Abenah Harding, Manel Pladevall-Vila, Sarah Landis
Format: Article
Language:English
Published: BMC 2021-06-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Phenylketonuria
Hyperphenylalaninemia
Prevalence
Newborn screening
Phenylalanine hydroxylase deficiency
Online Access:https://doi.org/10.1186/s13023-021-01874-6

Internet

https://doi.org/10.1186/s13023-021-01874-6

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