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2013, Number 2

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Rev Cub Gen 2013; 7 (2)

Causes and frequencies of fucosidosis in Holguín province

Tamayo CVJ, Llauradó RRA, Campos HD, Monaga CM, Santana HEE

Language: Spanish
References: 20
Page: 33-37
PDF size: 436.67 Kb.


ABSTRACT

Fucosidosis is a rare lysosomal storage disease, so the study of several cases was carried out in order to investigate some factors related to its presence in the Holguín province. All patients clinically diagnosed with the disease were included, as well as oligosaccharides excretion in urine and the quantification of the α-L.-fucosidase enzymatic activity in leukocytes. Genealogical trees for the families were prepared and the place of origin of each one of the antecessors of each patient was determined. It was found that 50,0 %, eight out of the sixteen patients diagnosed, exhibited parental consanguinity antecedents while eleven of them (60,75 %) descended from ancestors native of a geographical zone northeast of Holguín city. It was concluded that the existence of mutations causing the disease, plus the ancestral endogamy practice, are the causes of the high frequency of this metabolic error in our province.


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