Abstract
Lysosomal storage disorders (LSDs) are relatively common slow progressive inborn error
of metabolism encountered by clinicians. This work intends to highlight the more common
LSDs, their clinical presentation, outcome, and mutation (wherever feasible) collected
from the genetic clinic at tertiary care center in Eastern Uttar Pradesh. The data
for analysis were collected retrospectively from genetic records from a follow-up
clinic. All cases < 18 years of age were analyzed. Cases with LSDs with confirmed
enzyme results were enrolled in this study. Clinical profile, screening test results,
and outcome were collected. There were 32 cases including 27 males and 5 females in
this cohort: 8 Gaucher disease (GD) patient and 24 non-GD patients. GD (type 1) is
the commonest LSD in GD group. Anemia, thrombocytopenia, splenomegaly, and hepatomegaly
were the consistent finding in patients with GD (type 1). L483P mutation was reported
in two GD patients. One GD patient is on enzyme replacement therapy for 2 years and
is currently doing well. The commonest disorders in non-GD were mucopolysaccharidosis
(MPS) (n = 11), metachromatic leukodystrophy (n = 4), I-cell disease (n = 3), Niemann-Pick A/B (n = 3). MPS-II is the commonest MPS among non-GD group.
Keywords
lysosomal storage disorders - Gaucher disease - pediatric
