Annals of Indian Academy of Neurology
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Lysosomal Storage Disorders: Clinical, Biochemical and molecular profile from Rare disease centre, India

 Centre of Rare Disease, Department of Pediatrics, SMS Medical College, Jaipur, Rajasthan, India

Correspondence Address:
Manisha Goyal,
Centre of Rare Disease, Department of Pediatrics, J. K. Lon Hospital, SMS Medical College, Jaipur - 302 004, Rajasthan
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/aian.AIAN_1009_20

Introduction: Lysosomal storage disorders (LSDs) are a heterogeneous group of large molecule inborn errors of metabolism, rather commonly seen by clinician. Objectives: This study aims to highlight the more common type of LSDs, their frequency, clinical spectrum and outcome from Rare disease centre in Rajasthan. Methods: The retrospective data were collected including clinical profile, investigations, screening test and enzyme analysis results. All outcomes were recorded from follow-up clinic. Results: This cohort comprised 65 children with different type of LSDs including 54 males and 11 females. The average age of presentation of the LSD patients was 3.5 years (range 6 months to 13 years). Gaucher disease was the most commonly found LSD (46.1%) followed by mucopolysaccharidosis (35.3%). Common presentations among GD patients were anemia, thrombocytopenia, and abdominal distension due to splenohepatomegaly/hepatomegaly. Among MPS Disorder, MPS type 2 (Hunter syndrome) was the most common (39.1%), followed by MPS type 1(Hurler syndrome) (30%) and MPS type IVA (Morquio syndrome) (17.3%). Non GD non MPS group comprised most commonly of GM1 gangliosidosis followed by pompe disease, Metachromatic Leucodystrophy, Mucolipidosis type II (I cell disease), and Sandhoff disease. Conclusions: LSDs comprises an important group of genetic metabolic disorders. Among these GD are the most common, followed by MPS.

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    -  Goyal M
    -  Gupta A
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