Mucopolisacaridosis

LAS MUCOPOLISACARIDOSIS
THE MUCOPOLYSACCHARIDOSIS
Paulina Mabe S.
Unidad de Genética y Enfermedades Metabólicas, Instituto de Nutrición y Tecnología de los Alimentos (INTA), Universidad de Chile.Dirección para correspondencia
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Abstract
The mucopolysaccharidosis (MPS) are inherited metabolic disorders caused by deficiencies of the enzymes responsibleof the intralysosomal catabolism of glycosaminoglycans (GAGs). The MPS are inherited as autosomic recessives, except Hunter disease that has a X-chromosomal linked inheritance. With an incidence ofapproximately 1: 10 000 to 25 000 live newborns, the MPS are the most frequent of the lysosomal storage diseases. The progressive accumulation of GAG in the different organs causes multisystemiccompromise. The more prominent symptoms of MPS are coarse facies, macrocephaly, corneal clouding, multiple bone dysplasias, short stature, mitral and aortic valve abnormalities, hepatosplenomegaly,umbilical and inguinal hernias, all of these symptoms may be associated with psychomotor developmental retardation and progressive neurological deterioration. Because the lack of therapies, except for theless severe forms of the MPS I, patients live no more than 10 to 40 years. In this review are presented the clinical characteristics of each MPS phenotype, as well as the laboratory study and theprogress in the development of safe and efficient therapies.
Key words: Mucopolysaccharidosis, infants, inherited diseases.
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Resumen
Las mucopolisacaridosis (MPS)son errores innatos del metabolismo de los glicosaminoglicanos (GAG), que ocurren por déficit de alguna de las enzimas que degradan estas moléculas en los lisosomas. Esto conduce al depósitointralisosomal progresivo de GAG en diferentes tejidos, lo que explica el carácter multistémico de estas patologías. Las MPS, se presentan con una frecuencia aproximada de 1 caso en 10.000 a 25.000 recién...