Resumen de Estudio epidemiológico de las enfermedades metabólicas con homocistinuria en España
María Concepción García Jiménez, A. Baldellou, M. T. García Silva, Jaime Dalmau Serra, Ángels García Cazorla, Lilian Gómez López, Consuelo Pedrón Giner, O. Alonso Luengo, Luis Peña Quintana, María Luz Couce Pico, Mercedes Martínez-Pardo Casanova, N. Lambruschini Ferri
Objectives To determine the prevalence of homocystinuria in Spain and to establish the measures and mechanisms to ensure its prevention, diagnosis and treatment.
Material and methods A national cross-sectional survey was conducted by means of a questionnaire sent to 35 hospitals in which children and adult patients are treated.
Results Using the questionnaires submitted by 25 physicians from 16 centres, 75 patients were identified: 41 transsulphuration defects (one deceased), 27 remethylation (six deaths) and 7 without a syndromic diagnosis. The age at diagnosis varied widely, and 18 cases had more than one sibling affected. The more severe clinical manifestations involved the patients with remethylation defects. There was a high percentage of cognitive impairment, followed by lens diseases. Almost half of the patients had neurological disorders. There was increased vascular involvement in CBS-deficient adults. The therapeutic options most used were, folic acid, hydroxycobalamin and betaine.
Conclusions In view of these results and especially the small number of CBS deficiencies detected, we conclude that there is a need to introduce newborn screening for classical homocystinuria and ensure implementation of an appropriate diagnostic workup in all patients at risk.
