A case report of ASMD Niemann pick disease

V S Hamsa; Arun Shriram; S Jagadeeswari; S Sundari

doi:10.53730/ijhs.v6nS2.7238

A case report of ASMD Niemann pick disease

https://doi.org/10.53730/ijhs.v6nS2.7238

Authors

Hamsa V S
hamslaksh41@gmail.com
PG Department of paediatrics Sree Balaji Medical College and Hospital Chrompet, Chennai-600044
Arun Shriram Assistant Professor, Department of paediatrics Sree Balaji Medical College and Hospital Chrompet, Chennai-600044
Jagadeeswari S Professor, Department of paediatrics Sree Balaji Medical College and Hospital Chrompet, Chennai-600044
Sundari S Professor and HOD Department of paediatrics Sree Balaji Medical College and Hospital Chrompet, Chennai-600044

Keywords:

Niemann pick disease, acid sphingomyelinase, sphingomyelin

Abstract

Niemann Pick Disease is a rare disorder of lysosomal storage of the lipid sphingomyelin and foam cell infiltration of tissues presenting with varying degrees of severity. metabolic abnormalities of two types responsible for causing NPD. acid sphingomyelinase deficiency is the first metabolic abnormality causing NPD type A and B and and second is defect in cholesterol transport causing NPD type C disease. Herewith reporting a case of Acid Sphingomyelinase Deficient (ASMD) NPD Type A.

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References

Nelson text book of Pediatrics, 20th edition

https://nnpdf.org/files/2015/10/A-Guide-to-ASMD-Niemann-Pick-Disease-Types-A-and-B.pdf

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5347465/

McGovern MM, Aron A, Brodie SE, Desnick RJ. Natural history of type A Niemann-Pick disease; possible endpoints for therapeutic trials. Neurology. 2006;66:228–232.

Brady RO, Kanfer JN, Mock MB, Fredrickson DS. The metabolism of sphingomyelin. II. Evidence of an enzymatic deficiency in Niemann-Pick disease. Proc. Natl. Acad. Sci. U.S.A. 1966;55:366–369.

Published

12-05-2022

How to Cite

Hamsa, V. S., Shriram, A., Jagadeeswari, S., & Sundari, S. (2022). A case report of ASMD Niemann pick disease. International Journal of Health Sciences, 6(S2), 8652–8655. https://doi.org/10.53730/ijhs.v6nS2.7238

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Issue

Vol. 6 No. S2 (2022)

Section

Peer Review Articles

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