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 literature review and meta-analysis was to estimate the global birth prevalence of PAH deficiency from newborn screening studies and to estimate regional differences, overall and for various clinically relevant Phe cutoff values used in confirmatory testing.

Methods

The protocol for this literature review was registered with PROSPERO (International prospective register of systematic reviews). Pubmed and Embase database searches were used to identify studies that reported the birth prevale

SUBMITTER: Foreman PK 

PROVIDER: S-EPMC8173927 | biostudies-literature | 2021 Jun

REPOSITORIES: biostudies-literature