Resonancia magnética nuclear de encéfalo en pacientes con fenilcetonuria diagnosticada tardíamente

Jiménez-Pérez, Mario O.; Gómez-Garza, Gilberto; Ruiz–García, Matilde; Fernández-Lainez, Cynthia; Ibarra-González, Isabel; Vela-Amieva, Marcela

doi:10.18233/apm36no1pp9-17

Cited by 2 publications

(6 citation statements)

References 28 publications

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“…Sixty-four of the 79 included studies reported at least one patient-important outcome at individual or population level, and they are displayed in Table 1 for study characteristics. Regarding study design, 18 were case series [ 22 , 23 , 33 , 34 , 40 – 42 , 45 , 54 , 55 , 58 , 60 , 70 , 84 – 87 ], 47 cross-sectional studies [ 6 , 7 , 13 – 15 , 17 – 21 , 24 , 26 , 29 , 30 , 35 – 39 , 43 , 46 , 47 , 53 , 56 , 59 , 61 , 62 , 67 , 68 , 71 , 73 , 75 – 77 , 79 – 81 , 88 – 91 ], 13 case reports [ 34 , 44 , 48 , 51 , 63 , 64 , 69 , 74 , 84 , 87 , 92 – 94 ], and two cohort studies [ 57 , 95 ].…”

Section: Resultsmentioning

confidence: 99%

“…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%

“…Studies that did not provide quantitative data on outcome of interest in papers were also excluded from analysis as well as studies that did not report whether the treatment was implemented at an early or late age. Therefore, out of 67 included studies [ 14 , 16 , 19 – 29 , 31 – 34 , 39 – 45 , 48 – 50 , 52 – 57 , 59 – 70 , 72 – 86 , 88 – 101 ], 20 studies [ 22 , 29 , 31 , 39 – 42 , 52 , 55 , 59 , 60 , 62 , 66 , 67 , 76 , 77 , 77 , 78 , 80 , 83 , 96 , 98 ] qualified for the quantitative analysis described below. None of the included studies evaluating early-diagnosed PKU patients reported symptoms including headache and fatigue, quality of life, or the impact of PKU on the healthcare system.…”

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%

Section: Resultsmentioning

confidence: 99%

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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“…At least in two c. 60 + 5G > T-homozygous and lately diagnosed patients (CD group), we documented central nervous system sequelae (Figure 4), consisting of basal ganglia and white matter brain damage. Remarkably, although the male patient was diagnosed at a younger age, he showed the involvement of basal ganglia, but it is known that imaging studies of PKU patients do not always correlate with the severity of the observed phenotype [39].…”

Section: Discussionmentioning

confidence: 97%

An Updated PAH Mutational Spectrum of Phenylketonuria in Mexican Patients Attending a Single Center: Biochemical, Clinical-Genotyping Correlations

Vela-Amieva

Alcántara-Ortigoza

Ibarra-González

et al. 2021

Genes

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Establishing the genotypes of patients with hyperphenylalaninemia (HPA)/phenylketonuria (PKU, MIM#261600) has been considered a cornerstone for rational medical management. However, knowledge of the phenylalanine hydroxylase gene (PAH) mutational spectrum in Latin American populations is still limited. Herein, we aim to update the mutational PAH spectrum in the largest cohort of HPA/PKU Mexican patients (N = 124) reported to date. The biallelic PAH genotype was investigated by Sanger automated sequencing, and genotypes were correlated with documented biochemical phenotypes and theoretical tetrahydrobiopterin (BH4) responsiveness. Patients were biochemically classified as having classic PKU (50%, 62/124), mild PKU (20.2%, 25/124) and mild HPA (29.8%, 37/124). Furthermore, 78.2% of the included patients (97/124) were identified by newborn screening. A total of 60 different pathogenic variants were identified, including three novel ones (c. 23del, c. 625_626insC and c. 1315 + 5_1315 + 6insGTGTAACAG), the main categories being missense changes (58%, 35/60) and those affecting the catalytic domain (56.6%, 34/60), and c. 60 + 5G > T was the most frequent variant (14.5%, 36/248) mainly restricted (69.2%) to patients from the central and western parts of Mexico. These 60 types of variants constituted 100 different biallelic PAH genotypes, with the predominance of compound-heterozygous ones (96/124, 77%). The expected BH4 responsiveness based on the PAH genotype was estimated in 52% of patients (65/124), mainly due to the p. (Val388Met) (rs62516101) allele. Instead, our study identified 27 null variants with an allelic phenotype value of zero, with a predominance of c. 60 + 5G > T, which predicts the absence of BH4 responsiveness. An identical genotype reported in BIOPKUdb was found in 92/124 (74%) of our patients, leading to a genotype–phenotype concordance in 80/92 (86.9%) of them. The high number of variants found confirms the heterogeneous and complex mutational landscape of HPA/PKU in Mexico.

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Resonancia magnética nuclear de encéfalo en pacientes con fenilcetonuria diagnosticada tardíamente

Cited by 2 publications

References 28 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

An Updated PAH Mutational Spectrum of Phenylketonuria in Mexican Patients Attending a Single Center: Biochemical, Clinical-Genotyping Correlations

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