Abstract

MENENDEZ SAINZ, Caridad; ZALDIVAR MUNOZ, Claudina  and  GONZALEZ-QUEVEDO MONTEAGUDO, Alina. Errores innatos del metabolismo: Enfermedades lisosomales. Rev Cubana Pediatr [online]. 2002, vol.74, n.1, pp. 68-76. ISSN 1561-3119.

Among the metabolism inborn errors, there are the lysosomal storage diseases or lysosomal enzymopathies that are characterized by an specific enzymatic deficiency, excretion of metabollites in urine and accumulation of non-degraded compounds in various organs and tissues causing their dysfunction. These diseases have a recessive autosomal heredity, except for Fabry´s disease and Hunter’s disease in which the pattern of heredity is chromosome X-linked. These diseases have a low incidence in general although there are populations where they show a high incidence. Their importance lies in what they represent as a health problem because of the poor quality of life of these patients and their early death, therefore, it is necessary to prevent the birth of new infants affected with these diseases.

Keywords : METABOLISM INBORN ERRORS [diagnosis]; LYSOSOMAL STORAGE DISEASES [genetics]; DIAGNOSTIC TECHNIQUES.