Refine your search
Collections
Co-Authors
Journals
Year
A B C D E F G H I J K L M N O P Q R S T U V W X Y Z All
Magar, Suvarna
- Lysosomal Storage Disorders: An Underdiagnosed Metabolic Disorder
Abstract Views :251 |
PDF Views:0
Authors
Affiliations
1 Suchak Hospital (Malad) & Sir HN Reliance Foundation Hospital and Research Centre (Girgaon), IN
2 MGM Medical College, N-6, CIDCO, Aurangabad, IN
3 Ahmedabad 380015, Gujarat, IN
1 Suchak Hospital (Malad) & Sir HN Reliance Foundation Hospital and Research Centre (Girgaon), IN
2 MGM Medical College, N-6, CIDCO, Aurangabad, IN
3 Ahmedabad 380015, Gujarat, IN
Source
The Indian Practitioner, Vol 73, No 6 (2020), Pagination: 26-32Abstract
Lysosomal storage disorders (LSDs) are a group of 70 different metabolic diseases with a likely incidence of 1:5000 to 1:8000. They present with heterogeneous overlapping phenotypes mainly involving regression in learned skill, or-ganomegaly, skeletal dysplasia, mental retardation, cherry red spot and progressive visual loss. Main cause of these disorders is due to the accumulation of cellular debris, undigested protein, fat, carbohydrates, complex lipids due to defect in the gene that regulates the respective enzyme synthesis required for the degradation of the above material. Early diagnosis can help for the initiation of enzyme replacement therapy (ERT) or Bone marrow transplantation (BMT) for a few of theses while prenatal diagnosis holds promise for the prevention of LSDs in future generations. Gene therapy for many of these diseases are evolving in near future as some of them are in clinical trials.Keywords
Lysosomes, Lysosomal Storage Disorders, Metabolic Disorders, Enzyme Replacement Therapy, Neuroregression, Hepatosplenomegaly, Skeletal Dysplasia.
References
- Platt FM, d’Azzo A, Davidson BL, Neufeld EF, Tifft CJ. Lysosomal storage diseases [published correction appears in Nat Rev Dis Primers. 2018 Oct 18;4(1):36] [published correc-tion appears in Nat Rev Dis Primers. 2019 May 17;5(1):34]. Nat Rev Dis Primers 2018;4(1):27. Published 2018 Oct 1.
- Agarwal S, Lahiri K, Muranjan M, Solanki N. The face of lysosomal storage disorders in India: a need for early diagnosis. Indian J Pediatr 2015;82:525-29.
- Sheth J, Mistri M, Sehth F, Shah R, et al. Burden of lysosomal storage disorders in India: experience of 387 affected children from a single diagnostic facility. JIMD Rep 2014;12:51-63.
- Bahrucha BA, Kher AS, Naik GG, at al. Spectrum of inherited metabolic disorders in India- a 15-year experience. In Chaudhary P, Sachdev HPS, Puri RK et al (eds). Abstracts 8th Asian Congress of Pediatrics. New Delhi, Jaypee Publishers, 1994;98.
- Sheth JJ, Mistri M, Bhavsar R, Sheth FJ, Kamate M, Shah H, Datar C. Lysosomal Storage Disorders in Indian children with neuroregression attending genetic center. Indian Pediatr. 2015; 52:1029-33.
- Walkley SU. Pathogenic cascades in lysosomal disease-Why so complex? J Inherit Metab Dis. 2009;32:181-189.
- Sheth JJ, Pancholi D, Mistri M, Nath P, Ankleshwaria C, Bhavsar R, Puri R, Phadke S, Sheth F. Biochemical and mo-lecular characterization of adult patients with type I Gaucher disease and carrier frequency analysis of Leu444Pro - a com-mon Gaucher disease mutation in India? BMC Med Genet 2018;19;178. 32
- Sheth JJ, Mistri M, Sheth FJ, Datar C, Godbole K, Kamate M, Patil K. Prenatal diagnosis of Lysosomal Storage disorders by enzymes study using chorionic villus and amniotic fluid. J Fetal Med. 2014;1:17.
- Lachmann R. Treating lysosomal storage disorders: what have we learnt? J Inherit Metab Dis 2019;1-8.
- Muranjan M, Karande S. Enzyme replacement therapy in India: lessons and insights. J Postgrad Med 2018;64:195-9.
- WilcoxW. Lysosomal storage disorders: the need for better pediatric recognition and comprehensive care. J Pediatr 2004;144:S3–14.
- Sheth JJ, Mistri M, Shah K, Chaudhary M, Godbole K, Sheth F. Lysosomal storage disorders in Non-Immune Hydrops Fetalis: An Indian Experience. JIMD Reports 2016;35:47-52.
- Beck M. Treatment strategies for lysosomal storage disorders. Dev Med Child Neurol 2018;60:13-18.
- Wynn R.F. Mercer J., Page J., et al., Use of enzyme replace-ment therapy (Laronidase) before hematopoietic stem cell transplantation for mucopolysaccharidosis I: Experience in 18 patients, J Pediatr154(1) (2009), 135–139.