ArticleAnnals of Indian Academy of Neurology
Lysosomal Storage Disorders: Clinical, Biochemical and molecular profile from Rare disease centre, India.
Article in Annals of Indian Academy of Neurology. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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Who cites it
3 citing papers in PubMed, 8 citations in OpenAlex.
- Development of national biobank for lysosomal storage disorders in India- a step towards advancing research and precision medicine.Orphanet journal of rare diseases · 2026Article
- Genotype Meets Phenotype: Unraveling Gaucher's Genetic Landscape in the Indian Population.Cureus · 2025Review
- Lysosomal storage disorders: from biology to the clinic with reference to India.The Lancet regional health. Southeast Asia · 2023Review
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionLysosomal storage disorders (LSDs) are a heterogeneous group of large molecule inborn errors of metabolism, rather commonly seen by clinician.
objectivesThis study aims to highlight the more common type of LSDs, their frequency, clinical spectrum and outcome from Rare disease centre in Rajasthan.
methodsThe retrospective data were collected including clinical profile, investigations, screening test and enzyme analysis results. All outcomes were recorded from follow-up clinic.
resultsThis 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.
conclusionsLSDs comprises an important group of genetic metabolic disorders. Among these GD are the most common, followed by MPS.
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