Abstract
Gaucher disease (GD), which is due to a deficiency in the lysosomal enzyme β-glucocerebrosidase,
is a rare genetic disorder. It is characterized by a wide variety of clinical manifestations
and severity of symptoms, making it difficult to manage. A cross-sectional hospital-based
genetic study was undertaken with 32 pediatric patients. We recruited 21 males and
11 females diagnosed with GD, with a male-to-female ratio of 1.91:1. The mean age
of the study population was 8.79 ± 4.37 years with an age range from 8 months to 17
years. We included patients on clinical evaluation from 2011 to 2019. An enzyme assay
test was used to measure β-glucosidase enzyme activity in leukocytes and the GBA gene study was performed by polymerase chain reaction technique. We found GD type
1 in 27 (84.37%) participants, GD type 3 in five (15.63%) participants, while none
classified as GD type 2. The dominant mutation in GD 1 was N370S in 81.5%, of which
two-thirds were homozygous. The second common mutation in this type of disease (L444P)
was present in nine cases (40.9%), two of whom were homozygous (9.9%). Meanwhile,
R463C was present in six cases (27.27%), of whom one was homozygous. In GD 3, the
dominant mutation was L444P as seen in 80% of the patients followed by N370S and R463C
in 20%. This study shows that the most common mutant allele in this study was N370S,
followed by L444P. Further large-scale studies with more advanced designs are recommended
to explore the sequences of GBA genes.
Keywords
Gaucher disease - N370S - L444P - R463C -
GBA genes
