Buscar

Estamos realizando la búsqueda. Por favor, espere...

 Detalle_Publicacion

6R-tetrahydrobiopterin treated PKU patients below 4 years of age: Physical outcomes, nutrition and genotype

Abstract: Background and Aims: Phenylalanine-restricted diets have proven effective in treating phenylketonuria. However, such diets have occasionally been reported to hinder normal development. Our study aimed to assess whether treating 0–4-year-old phenylketonuric patients with 6R-tetrahydrobiopterin might prevent growth retardation later in life. Methods: We conducted a longitudinal retrospective study which examined anthropometric characteristics of phenylketonuric patients on 6R-tetrahydrobiopterin therapy (22 subjects), and compared them with a group of phenylketonuric patients on protein-restricted diets (44 subjects). Nutritional issues were also considered.We further explored possible relationships betweenmutations in the PAH gene, BH4 responsiveness and growth outcome. Results: No significant growth improvements were observed in either the group on 6R-tetrahydrobiopterin treatment (height Z-score: initial = -0.57 ± 1.54; final = -0.52 ± 1.29; BMI Z-score: initial = 0.17 ± 1.05; final = 0.18 ± 1.00) or the diet-only group (height Z-score: initial = -0.92 ± 0.96; final = -0.78 ± 1.08; BMI Z-score: initial =0.17 ± 0.97; final = -0.07 ± 1.03) over the 1-year observation period. Furthermore, we found no significant differences (p N 0.05) between the two groups at any of the time points considered (0, 6 and 12 months). Patients on 6R-tetrahydrobiopterin increased their phenylalanine intake (from 49.1 [25.6–60.3] to 56.5 [39.8–68.3] mg kg-1 day-1) and natural protein intake (from 1.0 [0.8–1.7] to 1.5 [1.0–1.8] g kg-1 day-1), and some patientsmanaged to adopt normal diets.Higher phenylalanine and natural protein intakeswere positively correlated with better physical outcomes in the diet-only group (p b 0.05). No correlation was found between patient genotype and physical outcomes, results being similar regardless of the nutritional approach used.We did not detect any side effects due to 6R-tetrahydrobiopterin administration. Conclusions: Our study indicates that treating 0–4-year-old phenylketonuric patientswith 6R-tetrahydrobiopterin is safe. However, poor developmental outcomes were observed, despite increasing the intake of natural proteins. Genotype could be a valid predictor of tetrahydrobiopterin-responsiveness, since patients who carried the same genotype responded similarly to the 6R-tetrahydrobiopterin loading test. On the other hand, harbouring 6Rtetrahydrobiopterin responsive genotypes did not predispose patients to better physical outcomes.

Otras publicaciones de la misma revista o congreso con autores/as de la Universidad de Cantabria

 Fuente: Mol Genet Metab. 2015 May;115(1):10-6

Editorial: Elsevier

 Fecha de publicación: 01/05/2015

Nº de páginas: 7

Tipo de publicación: Artículo de Revista

 DOI: 10.1016/j.ymgme.2015.03.007

ISSN: 1096-7192,1096-7206

Url de la publicación: http://www.sciencedirect.com/science/article/pii/S1096719215000876

Autores/as

LUIS ALDAMIZ-ECHEVARRIA AZUARA

BUENO, MARÍA A.

COUCE, MARÍA L.

LAGE, SERGIO

JAIME DALMAU SERRA

VITORIA, ISIDRO

LLARENA, MARTA

ANDRADE, FERNANDO

BLASCO, JAVIER

ALCALDE, CARLOS

GIL, DAVID

GARCÍA, MARÍA C.

RUIZ, MARÍA A.

PEÑA QUINTANA, LUIS

GONZÁLEZ, DAVID

SÁNCHEZ VALVERDE, FÉLIX