Fecha de recepción: 26/04/2018 – Fecha de aceptación: 10/06/2018
Puebla Villaescusa A1, Salcedo Mingoarranz AL2, Hidalgo Correas FJ3, García Díaz B4
1 Residente 4 año Farmacia Hospitalaria
2 Residente 3 año Farmacia Hospitalaria
3 F.E.A. Farmacia Hospitalaria
4 Jefe Servicio Farmacia
Servicio de Farmacia. Hospital Universitario Severo Ochoa. Leganés. Madrid (España)
Ana Puebla Villaescusa w Hospital Universitario Severo Ochoa (Servicio de Farmacia) w Avda. Orellana, s/n w Leganés. 28911 Madrid (España)
Phenylketonuria is an autosomal recessive hereditary disease caused by the lack of the enzyme phenylalanine hydroxylase (FAOH) or dihydropterine reductase (DHPR), which causes an increase in blood levels of phenylalanine and other metabolites such as phenylpyruvate, phenylactate and phenylacetate, proceeding from alternative metabolic pathways and causing damage to the central nervous system. Characterized by severe mental and psychomotor retardation, the main treatment of the disease is to maintain strict metabolic control from its detection at birth using phenylalanine free diets and supplemented with the rest of amino acids, vitamins and minerals. However, there is currently controversy as to whether this dietary restriction should be continued throughout life or may be disrupted around the first decade of life, once the period of maximum development of the central nervous system has passed. Following a case, the objective of this report is to perform a review of the convenience or not of dietary restriction in adulthood in these patients.
Key Words: Phenylketonuria, dietary restriction, adulthood, acute neurological complications.
Download PDF: Deterioro neurológico agudo en un adulto fenilcetonúrico tras 12 años sin dieta de restricción: revisión a raíz de un caso