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Relative Frequency of Metachromatic Leukodystrophy in Egypt: A Reference Laboratory Report
Ekram Fateen1, Zeinab Y Abdallah1
1Biochemical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, 12622 Cairo, Egypt.
Frontiers in Bioscience (Scholar Edition)
|December 30, 2024
Summary
Metachromatic leukodystrophy (MLD), a neurodegenerative lysosomal storage disease, was diagnosed in 13% of suspected Egyptian cases over 21 years. The study establishes MLD prevalence in Egypt at 1.6/100,000, aiding future diagnostic efforts.
Area of Science:
- Biochemistry
- Genetics
- Neurology
Background:
- Metachromatic leukodystrophy (MLD) is an autosomal recessive neurodegenerative lysosomal storage disease.
- MLD results from arylsulfatase A (ARSA) deficiency.
- Biochemical diagnosis relies on measuring residual ARSA activity.
Purpose of the Study:
- To document biochemical experience with MLD diagnosis.
- To estimate the relative frequency and prevalence of MLD in Egypt.
- To analyze diagnostic data over a 21-year period (2001-2022).
Main Methods:
- Analysis of 4357 suspected MLD cases in Egypt.
- Spectrophotometric determination of ARSA activity in leukocytes.
- Distinguishing MLD from pseudodeficiency based on enzyme activity levels.
Main Results:
- 577 cases (13%) showed decreased ARSA activity (<10% of low normal).
- 104 cases were identified with ARSA pseudodeficiency.
- The prevalence of MLD in Egypt was determined to be 1.6/100,000.
Conclusions:
- MLD diagnosis in Egypt relies on enzyme activity and clinical suspicion.
- Molecular analysis was performed in a limited number of cases.
- This study provides crucial epidemiological data for MLD in Egypt.
