J Pediatr Genet 2020; 09(02): 087-092
DOI: 10.1055/s-0039-3402070
Original Article
Georg Thieme Verlag KG Stuttgart · New York

Spectrum of Lysosomal Storage Disorders at Tertiary Centre: Retrospective Case-Record Analysis

Ankur Singh
1   Department of Paediatrics, Genetic Clinic, Institute of Medical Sciences, Banaras Hindu University, Varanasi, Uttar Pradesh, India
Rajniti Prasad
1   Department of Paediatrics, Genetic Clinic, Institute of Medical Sciences, Banaras Hindu University, Varanasi, Uttar Pradesh, India
Om Prakash Mishra
1   Department of Paediatrics, Genetic Clinic, Institute of Medical Sciences, Banaras Hindu University, Varanasi, Uttar Pradesh, India
› Author Affiliations
Further Information

Publication History

24 August 2019

22 November 2019

Publication Date:
02 January 2020 (online)


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.

Authors' Contribution

A.S. collected the primary data, R.P. conceptualized the idea as well as drafted the manuscript. R.P. did literature review and wrote parts of manuscript. O.P.M. helped in excavating the related literature on the subject. R.P. and O.P.M. gave critical inputs for improving the manuscript.

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