[Neurological, neuropsychological, and ophthalmological evolution after one year of docosahexaenoic acid supplementation in phenylketonuric patients]. / Evolucion neurologica, neuropsicologica y oftalmologica tras un ano de suplementacion con acido docosahexaenoico en pacientes fenilcetonuricos.

INTRODUCTION. Phenylketonuria (PKU) is an autosomal recessive metabolic disease caused by a deficiency of phenylalanine hydroxylase. The dietary therapy for the effective management of PKU, in particular the restriction of high-protein foods of animal-origin, compromises patients' intake of fat and distorts the n-3:n-6 ratio of essential fatty acids in the diet. This deficiency can contribute to neurological and visual impairment. AIM. To evaluate changes in white matter alterations, visual evoked potential (VEP) latencies and performance in executive and motor functions in a group of early and continuously treated PKU patients after supplementation with docosahexaneoic acid (DHA). PATIENTS AND METHODS. We selected 21 PKU patients with early diagnosis (age range: 9-25 years), on a Phe-restricted diet and supplemented with PKU formula. Inclusion criteria were: low erythrocyte DHA values, prolonged P100 wave latencies in VEP and/or presence of white matter hyperintensities on brain magnetic resonance imaging (MRI), and intellectual quotient > 80. All patients were treated with DHA (10 mg/kg/day) for 12 months. Assessment was conducted at baseline and after 12 months of treatment, and included biochemical parameters, brain MRI, VEP, ophthalmologic evaluation and neuropsychological tests. RESULTS AND CONCLUSION. All the patients normalized the DHA levels after supplementation. Improvement in the P100 wave latencies, and fine motor skills was significant. No significant improvement in the other explorations was evident after supplementation. Further investigations seem advisable to establish a cause-effect relationship between DHA treatment and the slight improvement observed in some neurological functions.

Evolución neurológica, neuropsicológica y oftalmológica tras un año de suplementación con ácido docosahexaenoico en pacientes fenilcetonúricos / Neurological, neuropsychological, and ophtalmological evolution after one year of docosahexaenoic acid supplementation in phenylketonuric patients

Introducción. La fenilcetonuria (PKU) es una enfermedad metabólica autosómica recesiva causada por la deficiencia defenilalanina hidroxilasa. El tratamiento dietético de la PKU consiste en la restricción de alimentos ricos en proteínas, loque afecta la ingestión de lípidos de los pacientes y distorsiona la relación n-3:n-6 de ácidos grasos esenciales en la dieta. Esta deficiencia puede contribuir al deterioro neurológico y visual de los pacientes. Objetivo. Evaluar los cambios en las alteraciones de la sustancia blanca, potenciales evocados visuales (PEV) y rendimiento en funciones ejecutivas y motrices en pacientes con PKU tratados precozmente tras la suplementación con ácidodocosahexaenoico (DHA).Pacientes y métodos. Se seleccionaron 21 pacientes con PKU (edad: 9-25 años), con dieta restringida en fenilalanina. Loscriterios de inclusión fueron: valores bajos de DHA eritrocitaria, retraso de latencias de la onda P100 en PEV o presencia dehiperintensidad de sustancia blanca en la resonancia magnética (RM) cerebral, y cociente intelectual > 80. Los pacientes se suplementaron con DHA (10 mg/kg/día) durante 12 meses. La evaluación se realizó al inicio del estudio y a los 12 mesesde tratamiento, e incluyó parámetros bioquímicos, RM, PEV, evaluación oftalmológica y pruebas neuropsicológicas. Resultados y conclusión. Los pacientes normalizaron los niveles de DHA tras la suplementación. La mejora en las latencias de la onda P100 y la motricidad fina fue significativa. No se evidenciaron cambios en las otras exploraciones tras el tratamiento. Es necesario proseguir la investigación para establecer una relación causa-efecto entre el tratamiento con DHA y la mejoría observada en algunas funciones neurológicas (AU)

Introduction. Phenylketonuria (PKU) is an autosomal recessive metabolic disease caused by a deficiency of phenylalanine hydroxylase. The dietary therapy for the effective management of PKU, in particular the restriction of high-protein foodsof animal-origin, compromises patients’ intake of fat and distorts the n-3:n-6 ratio of essential fatty acids in the diet. This deficiency can contribute to neurological and visual impairment. Aim. To evaluate changes in white matter alterations, visual evoked potential (VEP) latences and performance in executive and motor functions in a group of early and continuously treated PKU patients after supplementation with docosahexaneoic acid (DHA).Patients and methods. We selected 21 PKU patients with early diagnosis (age range: 9-25 years), on a Phe-restricted diet and supplemented with PKU formula. Inclusion criteria were: low erythrocyte DHA values, prolonged P100 wave latencies in VEP and/or presence of white matter hyperintensities on brain magnetic resonance imaging (MRI), and intellectual quotient > 80. All patients were treated with DHA (10 mg/kg/day) for 12 months. Assessment was conducted at baseline and after 12 months of treatment, and included biochemical parameters, brain MRI, VEP, ophthalmologic evaluation andneuropsychological tests.Results and conclusion. All the patients normalized the DHA levels after supplementation. Improvement in the P100 wavelatencies, and fine motor skills was significant. No significant improvement in the other explorations was evident aftersupplementation. Further investigations seem advisable to establish a cause-effect relationship between DHA treatmentand the slight improvement observed in some neurological functions (AU)