SciELO - Scientific Electronic Library Online

 
vol.74 número1Aspectos clínicos y genéticos en el diagnóstico de la paraparesia espástica hereditariaBezoares índice de autoresíndice de materiabúsqueda de artículos
Home Pagelista alfabética de revistas  

Servicios Personalizados

Revista

Articulo

Indicadores

  • No hay articulos citadosCitado por SciELO

Links relacionados

  • No hay articulos similaresSimilares en SciELO

Compartir


Revista Cubana de Pediatría

versión impresa ISSN 0034-7531versión On-line ISSN 1561-3119

Resumen

MENENDEZ SAINZ, Caridad; ZALDIVAR MUNOZ, Claudina  y  GONZALEZ-QUEVEDO MONTEAGUDO, Alina. Errores innatos del metabolismo: Enfermedades lisosomales. Rev Cubana Pediatr [online]. 2002, vol.74, n.1, pp.68-76. ISSN 0034-7531.

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.

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

        · resumen en Español     · texto en Español

 

Creative Commons License Todo el contenido de esta revista, excepto dónde está identificado, está bajo una Licencia Creative Commons