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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Prevalence of different types of lysosomal storage diseases in saudi arabia
Journal of Inherited Metabolic Disease, Volume 13, No. 6, Year 1990
Notification
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Description
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. © 1990 SSIEM and Kluwer Academic Publishers.
Authors & Co-Authors
Özand, Pinard T.
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Gascón, Generoso G.
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Al-Aqeel, Aida Imbrahim
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Saudi Arabia, Riyadh
Riyadh Military Hospital
Roberts, George T.
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Dhalla, M.
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Subramanyam, Sarvapelli B.
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Statistics
Citations: 31
Authors: 6
Affiliations: 2
Identifiers
Doi:
10.1007/BF01800209
ISSN:
01418955
e-ISSN:
15732665
Study Design
Cross Sectional Study