Sindrome De Fenilquetonuria Materna, Un Nuevo Desafío Para Chile

O., Pilar Peredto; B, Erna Raimann; G., Ximena Cataldo; G., Sandra Gallardo; E, Verónica Cornejo

doi:10.4067/s0717-75182010000100011

Cited by 3 publications

(3 citation statements)

References 9 publications

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“…Forty of the included studies were conducted in Brazil [ 14 , 19 – 24 , 26 , 27 , 29 , 31 , 43 , 45 , 51 , 56 , 58 , 59 , 62 , 64 , 67 , 69 – 73 , 75 – 78 , 80 , 81 , 83 , 84 , 86 , 88 , 91 , 94 , 97 , 98 ], seven in Argentina [ 15 , 17 , 18 , 33 – 38 , 46 , 47 ], five in Chile [ 39 – 42 , 89 ], three each in Colombia [ 48 , 54 , 74 ] and Mexico [ 55 , 85 , 93 ], two each in Ecuador [ 44 , 92 ], Venezuela [ 60 , 63 ] and Uruguay [ 32 , 90 ], and one in Cuba [ 68 ]. One study [ 87 ] was a multicenter conducted in Ecuador, Bolivia, and Paraguay.…”

Section: Resultsmentioning

confidence: 99%

“…The type of patient-important outcomes most frequently reported among the cross-sectional and case series studies were neurological, neurocognitive and neuropsychiatric impairments (n = 33 studies, 50.8%) [ 21 , 22 , 24 , 27 , 30 – 33 , 38 – 40 , 43 , 45 , 53 – 55 , 59 – 61 , 67 , 68 , 77 , 78 , 81 , 83 – 89 , 91 , 98 ], followed by overweight (n = 11, 16.9%) [ 23 , 26 , 40 , 56 , 68 , 71 – 73 , 76 , 80 , 89 , 97 ], patient adherence to clinical recommendations (n = 10, 15.4%) [ 7 , 22 , 33 , 62 , 66 , 67 , 70 , 79 , 82 , 83 , 87 ], executive function deficit (n = 6, 92.3%) [ 21 , 24 , 58 – 61 ], socioeconomic impact (n = 7, 10.8%) [ 7 , 29 , 30 , 54 , 59 , 68 , 83 , 86 ], skin problems (n = 4, 6.2%) [ 54 , 55 , 68 , 96 ], osteopenia (n = 5, 7.7%) [ 17 – 19 , 23 ...…”

Section: Resultsmentioning

confidence: 99%

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

Pessoa

Martins

Ribeiro

et al. 2022

Orphanet J Rare Dis

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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.

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Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

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

Pessoa

Martins

Ribeiro

et al. 2022

Orphanet J Rare Dis

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show abstract

“…Seven further studies[24, 26,31, 89,91,100,105] were published initially as a thesis followed by a full-text publication[25,27,32,90,92,101, 106]. When information regarding risk of bias or other aspects related to study criteria were unavailable in the methods, we attempted to contact study authors for additional information.Forty of the included studies were conducted inBrazil [18,20,[24][25][26][27][31][32][33]40,42,43,49,50,52,55,59, 60, 62, 63,[65][66][67][68][70][71][72][78][79][80][86][87][88][89][90][91][92][93][94][95]97,[99][100][101][102]105, 106], seven in Argentina[19, 22, 23, 28-30, 34, 44, 45, 57, 58], ve in Chile[35, 36, 38,39,77], three each in Colombia [46,53,...…”

mentioning

confidence: 99%

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

Pessoa

Martins

Ribeiro

et al. 2022

Preprint

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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 4,090 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 to 0.38; I2 = 83.7%, p = 0.0133; two studies; n = 114]. Motor delay was 15% [95% CI 0.04 to 0.30; I2 = 74.5%, p = 0.0083; four studies; n = 132]. Speech deficit was 35% [95% CI 0.08 to 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.

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¿Qué debe saber el pediatra de las hiperfenilalaninemias?

Bravo

Raimann

Cabello

et al. 2015

Revista Chilena de Pediatría

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Hyperphenylalaninaemias are defined by a blood phenylalanine over 2mg/dl. The main cause is due to a mutation in the gene that codes the phenylalanine hydroxylase that catalyses the reaction that converts phenylalanine into tyrosine. The hyperphenylalaninaemias are classified into benign or mild hyperphenylalaninaemias, or mild, moderate or classic phenylketonurias. Due to its delayed detection outside the neonatal period it causes severe mental retardation. Its detection along with congenital hypothyroidism has been part of the National Neonatal Screening Program since 1992 in Chile. This article aims to answer the most common questions asked by the paediatrician when faced with a patient with hyperphenylalaninaemias.

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Sindrome De Fenilquetonuria Materna, Un Nuevo Desafío Para Chile

Cited by 3 publications

References 9 publications

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

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

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

¿Qué debe saber el pediatra de las hiperfenilalaninemias?

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