Menéndez-Sainz C, González-García S, Zaldívar-Muñóz C, González-Quevedo MA

Language: Spanish
References: 38
Page: 150-155
PDF size: 77.88 Kb.

ABSTRACT

Mucopolysaccharidoses are a family of hereditary disorders caused by the lysosomal enzymes deficiency necessary for the degradation of glycosaminoglycanes (GAG), also known as “mucopolysaccharides”. These degraded or partially degraded GAG are accumulated in lysosomas of the different cells and/or excreted by urine. Each one of the known MPS involves the deficiency of one of ten enzymes necessary to carry out the degradation of dermatan, heparan and keratan sulfate, mainly single or in combination of these. The MPS that cause affectations in the central nervous system (CNS) are: MPS I in Hurler and Hurler-Scheie syndromes; MPS II in the severe form; in all the subtypes of MPS III and in severe form of MPS VII or Sly disease. Almost all the neurological affectations talk about mental deterioration and retardation in the psychomotor development produced by accumulation of heparan sulfate in nervous cells’ lysosomes, which suggests this compound plays a special role in the pathology of the CNS.

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