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Acta bioquímica clínica latinoamericana

versión impresa ISSN 0325-2957

Resumen

CAMPOS, Derbis et al. Assay of lysosomal N-acetyl-a-D-glucosaminidase and arylsulfatase A activities in Cuban adults. Acta bioquím. clín. latinoam. [online]. 2010, vol.44, n.4, pp. 647-652. ISSN 0325-2957.

The aim of this study was to determine, in a sample of Cuban individuals, a preliminary range of normal values of N-acetyl-a-D-glucosaminidase and arylsulfatase A activity, enzymes that are deficient in mucopolysaccharidosis type III B and metachromatic leukodystrophy, respectively. A cross-sectional research was conducted. Blood samples were obtained out of 38 adult individuals. The leucocytes were extracted and the specific enzymatic activity was assayed by spectrophotometric methods. All participants were characterized from the clinical point of view as healthy for both diseases. Average values of N-acetyl-a-D-glucosaminidase and arylsulfatase A specific activities of 1.52 ± 0.30 and 121.37 ± 20.14 nmol/mg/h, respectively were obtained. There were no significant differences related to ethnicity for any of the two enzymes (p <0.05). This is the first Cuban study in which ranges of activity for these enzymes have been reported in healthy individuals whose healthy and non-familiarly related with the disease status have been clinically demonstrated. The analysis of more samples will establish the cutoff points that will increase the reliability of the biochemical diagnosis of these diseases.

Palabras llave : Mucopolysaccharidosis III B; Metachromatic leukodystrophy; Acetylglucosaminidase; Arylsulfatase A; Lisosomal diseases; Reference values; Inborn errors of metabolism.

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