Abstract More than 40 lysosomal disorders are known and classifiedinto broad categories based on the nature of the undegradedmetabolites. In this review, the defective enzymatic activitiesare analyzed, and the pathology of the disorders are described. Various treatments are discussed, including enzyme replacementtherapy, which is the most successful treatment availabletoday. Figure 1. The cell biology of lysosomal storage disease.
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English Abstract Introduction: Represented by forty distinct genetic disorders, and mostly autosomal recessive, lysosomal storage diseases are caused by a deficiency of enzymes involved in the catabolism of complex molecules.
Objective: This study aims to identify the characteristics of these heterogeneous diseases. The average age was 3 years. A slight male predominance was noted with a sex ratio about 1. Consanguinity was found in The average age of onset of the disease was about 2 years.
Support consisted of symptomatic treatment in the majority of cases, and enzyme replacement therapy in a case of MPS type I. The evolution with a follow-up of 3 years on average, was marked by the occurrence of deaths in a case of metachromatic leukodystrophy and one case of MPS, and worsening respiratory table in a case of Niemann-Pick. No worsening of clinical symptoms was observed in the remaining cases.
Conclusion: Lysosomal diseases are conditions of extraordinary heterogeneity. The status of these diseases, most of which remain today without effective treatment, undoubtedly justifies the efforts in the development of gene therapies. Figure 1. Diagnostic des maladies lysosomiales. Valayannopoulos, et al. Lysosomal storage disease: revealing lysosomal function and physiology. Physiology Bethesda. Chabraoui, H.
Talbaoui, C. Germain et al. Kim S, de Vellis J. Stem cell-based cell therapy in neurological diseases: a review. J Neurosci Res.
Niemann-Pick par déficit en sphingomyélinase (types A ou B et intermédiaires)