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Meta-Analysis
. 2022 Jul 30;17(1):302.
doi: 10.1186/s13023-022-02450-2.

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

A L S Pessoa  1   2 , A M Martins  3 , E M Ribeiro  1   4 , N Specola  5 , A Chiesa  6 , D Vilela  7 , E Jurecki  8 , D Mesojedovas  7 , I V D Schwartz  9
Affiliations
Meta-Analysis

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

A L S Pessoa et al. Orphanet J Rare Dis. .

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.

Keywords: Attention deficit hyperactivity disorder; LATAM; Neurological disease; Overweight; Phenylketonuria.

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Conflict of interest statement

The other authors have declared no conflict of interests.

Figures

Fig. 1
Fig. 1
PRISMA flow diagram
Fig. 2
Fig. 2
Risk of bias assessment. (A) cross-sectional studies. (B) case series studies
Fig. 3
Fig. 3
Proportional meta-analysis of neurological, neurocognitive, and neuropsychiatric impairments outcomes in early-diagnosed PKU patients. (A) ADHD and hyperactivity. (B) Intellectual disability. (C) Irritability and aggressiveness. (D) Mental disorders. (E) Motor delay. (F) Speech and language deficits
Fig. 4
Fig. 4
Proportional meta-analysis of other outcomes in early-diagnosed PKU patients. (A) Obesity. (B) Overweight. (C) Skin alterations. (D) Sleeping disorders. (E) Patient adherence to clinical recommendations
Fig. 5
Fig. 5
Proportional meta-analysis of economic outcomes in early-diagnosed PKU patients
See this image and copyright information in PMC

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