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Orphanet Journal of Rare Diseases
Published in: Orphanet Journal of Rare Diseases 1/2022

Open Access 01-12-2022 | Disorders of Intellectual Development | Research

Burden of phenylketonuria in Latin American patients: a systematic review and meta-analysis of observational studies

Authors: A. L. S. Pessoa, A. M. Martins, E. M. Ribeiro, N. Specola, A. Chiesa, D. Vilela, E. Jurecki, D. Mesojedovas, I. V. D. Schwartz

Published in: Orphanet Journal of Rare Diseases | Issue 1/2022

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Abstract

Background

Phenylketonuria (PKU) is an inborn error of metabolism caused by a deficiency of the enzyme phenylalanine hydroxylase. If untreated, the complications of PKU lead to significant neucognitive and neuropsychiatric impairments, placing a burden on both the individual’s quality of life and on the healthcare system. We conducted a systematic literature review to characterize the impact of PKU on affected individuals and on healthcare resources in Latin American (LATAM) countries.

Methods

Searches of the global medical literature as well as regional and local medical literature up to September 2021. Observational studies on patients with PKU from any LATAM country. Pairs of reviewers independently screened eligible articles, extracted data from included studies, and assessed their risk of bias.

Results

79 unique studies (47 cross-sectional studies, 18 case series, 12 case reports, and two cohort studies) with a total of 4090 patients were eligible. Of these studies, 20 had data available evaluating early-diagnosed PKU patients for meta-analysis of burden outcomes. Intellectual disability in the pooled studies was 18% [95% Confidence Interval (CI) 0.04–0.38; I2 = 83.7%, p = 0.0133; two studies; n = 114]. Motor delay was 15% [95% CI 0.04–0.30; I2 = 74.5%, p = 0.0083; four studies; n = 132]. Speech deficit was 35% [95% CI 0.08–0.68; I2 = 93.9%, p < 0.0001; five studies; n = 162].

Conclusions

There is currently evidence of high clinical burden in PKU patients in LATAM countries. Recognition that there are many unmet neuropsychological needs and socioeconomic challenges faced in the LATAM countries is the first step in planning cost-effective interventions.
Appendix
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Metadata
Title
Burden of phenylketonuria in Latin American patients: a systematic review and meta-analysis of observational studies
Authors
A. L. S. Pessoa
A. M. Martins
E. M. Ribeiro
N. Specola
A. Chiesa
D. Vilela
E. Jurecki
D. Mesojedovas
I. V. D. Schwartz
Publication date
01-12-2022

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