Abstract

GUTIERREZ GARCIA, Enna A. et al. A new diagnostic alternative: study of the lysosomal diseases by enzymatic methods . Rev Cubana Med Gen Integr [online]. 2007, vol.23, n.1. ISSN 0864-2125.

In Cuba, the common diseases causing the death of children aged 0-5 are not a health problem anymore, and now the public health has focused its attention on others illnesses that produce death among neonates, children, adolescents and adults, such as the genetic diseases. A program has been designed to develop medical genetics, allowing to make a greater number of diagnoses. Nowadays, the National Center of Medical Genetics and the Cuban Health System besides having a primary care network that starts with the Family Physician, who in the case of a clinical suspicion of some genetic alteration seeks the support of the masters and clinical genetics specialists of every municipality, they also rely on lab tests for the diagnosis of 20 lysosomal diseases available all over the country that will benefit the patients and relatives with this genetic disorder.

Keywords : Genetics; inheritance; assays; enzimes; lysosomopathies; disease..