Krabbe Disease in the Arab World.

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.