INTRODUCTION Of all the innate errors of the metabolism, the mucopolysaccharidoses (MPS), a kind of lysosomal disease, are especially significant because of the serious clinical features they give rise to and the therapeutic difficulties they entail. Diagnosis of the index case is essential so that families can gain access to the preventive benefits of genetic counselling. To date, seven types of MPS and 11 enzyme deficiencies have been described. AIMS. Patients with a clinical diagnosis that leads the clinician to suspect they may be suffering from some type of MPS are referred to the Institute of Neurology and Neurosurgery to determine the possible enzyme deficiencies that will provide us with the key to a successful diagnosis.
PATIENTS AND METHODS A total of 588 patients who were clinically suspected of suffering from MPS, in whom 1,502 enzyme analyses were performed in order to classify the type of MPS they were suffering from. The MPS under examination are MPS I, MPS IIIB, MPS IVB, MPS VI and MPS VII.
RESULTS MPS I, or a-L-iduronidase deficiency, is the most commonly found with 23 cases (4.08% of the patients studied); 13 were females and the other 10 were males. Of the 23 cases, 10 presented the severe Hurler phenotype with mental retardation, five had the Scheie phenotype with preserved intelligence and eight displayed the intermediate Hurler-Scheie phenotype. Diagnosis was reached before the end of the first year in eight patients, between 1 and 5 years in nine of them and between 6 and 10 years in two cases. Enzyme activity in leucocytes was significantly lower in patients as compared to a control group and with respect to the parents (heterozygotes), and even comparing these to the control group, with a slight and expected overlap. CONCLUSION. The biochemical methodology used allows us, then, to reach a sure biochemical diagnosis and to offer the families the benefits of genetic counselling.
KeywordsLysosomal diseases
FULL TEXT(solo disponible en lengua castellana / Only available in Spanish)
Si ya es un usuario registrado en Neurologia, introduzca sus datos de inicio de sesión.
Rellene los campos para registrarse en Neurologia.com y acceder a todos nuestros artículos de forma gratuita
¿Olvidó su contraseña? Introduzca su correo electrónico y le haremos llegar una nueva
Estimado usuario de Revista de Neurología,
Debido a la reciente fusión por absorción de VIGUERA EDITORES, S.L.U., la entidad gestora de las publicaciones de Viguera Editores, entre ellas, Revista de Neurología, por EVIDENZE HEALTH ESPAÑA, S.L.U., una de las sociedades también pertenecientes al Grupo Evidenze, y con la finalidad de que Usted pueda seguir disfrutando de los contenidos y distintos boletines a los que está suscrito en la página web de neurologia.com, es imprescindible que revise la nueva política de privacidad y nos confirme la autorización de la cesión de sus datos.
Lamentamos informarle que en caso de no disponer de su consentimiento, a partir del día 28 de octubre no podrá acceder a la web de neurologia.com
Para dar su consentimiento a seguir recibiendo la revista y los boletines de neurologia.com vía correo electrónico y confirmar la aceptación de la nueva política de privacidad, así como la cesión de sus datos a Evidenze Health España S.L.U., el resto de las entidades del Grupo Evidenze y sus partners y colaboradores comerciales, incluyendo la posibilidad de llevar a cabo transferencias internacionales a colaboradores extranjeros, pulse en el siguiente enlace:
OPEN ACCESS
