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Krabbe Disease in the Arab World
1Department of Health Sciences, Biomedical Program, Qatar University, Doha, Qatar.
Insights
Krabbe disease (KD), a severe neurological disorder, affects Arab populations with high frequency, particularly the early infantile form. Genetic screening is crucial for early diagnosis and improved outcomes in Arab patients.
Area of Science:
- Neuroscience
- Genetics
- Pediatrics
Background:
- Krabbe disease (KD) is an autosomal recessive lysosomal storage disorder impacting brain white matter.
- It stems from mutations in the galactocerebrosidase enzyme gene.
- KD presents with varied onset, from early infancy to adulthood.
Purpose of the Study:
- To review clinical and molecular findings of Krabbe disease in Arab populations.
- To highlight the high prevalence of early infantile KD (EIKD) in specific Arab communities.
- To advocate for universal genetic screening programs in Arabia.
Main Methods:
- Literature review of studies on Krabbe disease in Arab patients.
- Analysis of clinical presentations and molecular genetics.
- Focus on prevalence data and genetic variants.
Main Results:
- EIKD shows a high prevalence (1/100-1/150) in Muslim Arab populations in Israel.
- The homozygous variant c.1582G>A (p.D528N) is linked to EIKD in Palestinian Arab patients.
- Arab patients exhibit diverse KD forms and clinical variability.
Conclusions:
- There is a significant under-reporting of KD prevalence in Arab countries.
- Targeted molecular diagnostics and universal genetic screening are needed for Arab patients.
- Early detection through screening can improve KD prognosis and management.
Abstract:
The autosomal recessive inherited Krabbe disease (KD) is a devastating pediatric lysosomal storage disorder affecting white matter of the brain. It is caused by mutations in the gene coding for the lysosomal enzyme galactocerebrosidase. While most patients present with symptoms within the first 6 months of life, others present later in life throughout adulthood. The early infantile form of KD (EIKD) is frequent in the Muslim Arab population in Israel, with a very high prevalence of approximately 1/100 to 1/150 live births. The homozygous variant c.1582G > A (p.D528N) was found to be responsible for EIKD in Palestinian Arab patients. KD was reported in different Arab countries with much lower frequency. While most Arab patients presented with EIKD, late infantile and late onset KD forms were also reported. Most Arab patients presented with variable symptoms ranging from EIKD to late onset KD, with variable clinical findings. Based on literature studies, this review focuses on the clinical and molecular findings of KD patients with Arab ancestry, and highlights the need for developing universal genetic screening programs to overcome the under-reported status of KD prevalence in Arabia. This is expected to improve the prognosis of the disease and promote targeted molecular diagnostics to the Arab patients.
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