Niemann-Pick Disease: An Underdiagnosed Lysosomal Storage Disorder
Joint Authors
Panigrahi, Inusha
Thapa, Babu R.
Kalra, Jasvinder
Dhanorkar, Manoj
Suthar, Renu
Kumar, Chanchal
Baalaaji, Mullai
Source
Issue
Vol. 2019, Issue 2019 (31 Dec. 2019), pp.1-5, 5 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2019-04-21
Country of Publication
Egypt
No. of Pages
5
Main Subjects
Abstract EN
Lysosomal storage disorders (LSDs) collectively constitute a significant public health burden in developing countries.
Commoner LSDs include Gaucher, Fabry, and Niemann-Pick disease (NPD), but many cases remain undiagnosed.
With the high incidence of consanguineous marriages, South East Asian countries are expected to have high prevalence of these LSDs.
Here we report 4 cases of NPD type A/B in 3 families presenting with hepatosplenomegaly and cytopenias including one family with two sibs having hypertension and mitral valve prolapse.
The diagnosis of NPD was proven by mutation analysis with identification of novel mutations, including a novel 4 bp insertion mutation (C>CCTGG) in exon 2 of the SMPD1 gene.
We also had two cases of NPD type C, confirmed on mutation analysis.
American Psychological Association (APA)
Panigrahi, Inusha& Dhanorkar, Manoj& Suthar, Renu& Kumar, Chanchal& Baalaaji, Mullai& Thapa, Babu R.…[et al.]. 2019. Niemann-Pick Disease: An Underdiagnosed Lysosomal Storage Disorder. Case Reports in Genetics،Vol. 2019, no. 2019, pp.1-5.
https://search.emarefa.net/detail/BIM-1136022
Modern Language Association (MLA)
Panigrahi, Inusha…[et al.]. Niemann-Pick Disease: An Underdiagnosed Lysosomal Storage Disorder. Case Reports in Genetics No. 2019 (2019), pp.1-5.
https://search.emarefa.net/detail/BIM-1136022
American Medical Association (AMA)
Panigrahi, Inusha& Dhanorkar, Manoj& Suthar, Renu& Kumar, Chanchal& Baalaaji, Mullai& Thapa, Babu R.…[et al.]. Niemann-Pick Disease: An Underdiagnosed Lysosomal Storage Disorder. Case Reports in Genetics. 2019. Vol. 2019, no. 2019, pp.1-5.
https://search.emarefa.net/detail/BIM-1136022
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1136022