Department of Biochemical Genetics, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt
Research Article
Twenty-Five Years of Biochemical Diagnosis of Gaucher Disease: The
Egyptian Experience
Author(s): Fateen EM* and Abdallah ZY*
Background: Gaucher disease is a rare multi-systemic metabolic disorder resulting from the deficiency
in β-glucocerebrosidase enzyme, with consequent accumulation of glucocerebroside. Less than 15% of mean
normal activity β-glucocerebrosidase in leukocytes is the gold standard for the diagnosis of Gaucher disease,
which is supplemented by a massive elevation in chitotriosidase enzyme activity. We report here our experience
in the biochemical diagnosis of Gaucher disease by showing the variability and the heterogeneity of the activity of
enzymes over 25 years from 1993-2017, through referring 5128 clinically suspected Gaucher disease cases to our
Biochemical Genetics Department, National Research Centre, as the main reference lab in Egypt for the diagnosis
of Inherited Metabolic Disorders.
Methods: β-g.. Read More»
Molecular and Genetic Medicine received 3919 citations as per Google Scholar report
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