[Mucopolysaccharidosis: 20-year enzymatic diagnosis in Cuba].

Introduction: Mucopolysaccharidoses (MPS), which belong to the family of inborn errors of metabolism, are characterised by their severe clinical manifestations (skeletal, neurological and visceral) and a chronic, progressive course leading to death at early stages of life. AIM. To accomplish an enzymatic diagnosis and characterise MPS within the Cuban population.

[Mucopolysaccharidosis type I in the Cuban population].

Introduction: Of all the innate errors of the metabolism, the mucopolysaccharidoses (MPS), a kind of lysosomal disease, are especially significant because of the serious clinical features they give rise to and the therapeutic difficulties they entail. Diagnosis of the index case is essential so that families can gain access to the preventive benefits of genetic counselling. To date, seven types of MPS and 11 enzyme deficiencies have been described.