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.
Keywords
Krabbe disease - galactocerebrosidase - genotype–phenotype correlation - Arabs - prenatal
diagnosis
