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Prevalence of different types of lysosomal storage diseases in saudi arabia
Author(s) -
Ozand P. T.,
Gascon G.,
Al Aqeel A.,
Roberts G.,
Dhalla M.,
Subramanyam S. B.
Publication year - 1990
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf01800209
Subject(s) - human genetics , lysosomal storage disorders , medicine , biology , pathology , disease , genetics , gene
Summary The frequency of different types of lysosomal storage diseases in 125 referred cases, collected over three years, was compared to the occurrence elsewhere. The data suggest that mucopolysaccharidosis (MPS) type IVA (Morquio disease), multiple sulphatase deficiency, Niemann‐Pick disease type B, GM2 gangliosidosis type ‘0’ (Sandhoff disease), and ceroid lipofuscinosis (Jansky‐Bielschowsky and Batten‐Spielmeyer‐Vogt syndromes) are encountered frequently in Saudi Arabia, as compared to other storage diseases. In contrast, some other diseases such as the adult variant of Gaucher's disease were not observed. Half of the GM2 gangliosidosis type ‘0’ cases originated from one large tribe in the country. Other conditions did not show tribal predilection. The ceroid lipofuscinosis cases in Saudi Arabia originated from four large families. Consanguineous marriages taking place within tribal boundaries probably account for the pattern observed.