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  • Case Report   
  • Cardiovasc Ther 2016, Vol 1(1): 102

Dysostosis Multiplex (Gm-1 Gangliosidosis: Type II)

Madhu KJ1*, Vijyalakshmi IB2, Chitra Narsimhan2 and CN Manjunath1
1Department of Cardiology, Sri Jayadeva Institute of Cardiovascular Sciences and Research, , India
2Department of Pediatrics Cardiology, Sri Jayadeva Institute of cardiovascular Sciences and Research, , India
*Corresponding Author : Madhu KJ, Department of Cardiology, Sri Jayadeva Institute of Cardiovascular Sciences and Research, India, Tel: +9902783016, Email: [email protected]

Received Date: Dec 24, 2015 / Accepted Date: Jan 05, 2016 / Published Date: Jan 11, 2016

Abstract

GM1 gangliosidosis is an autosomal recessive lysosomal storage disorder characterized by the generalized accumulation of GM1 ganglioside, oligosaccharides, and the mucopolysaccharide keratan sulfate (and their derivatives). Deficiency of the lysosomal hydrolase, acid β -galactosidase, causes GM1 gangliosidosis. GM1 gangliosidosis is a rare disorder, and the estimated incidence is 1:100,000- 200,000 live births. GM1 gangliosidosis is found in all races, although specific alleles can be identified in certain ethnic groups. A high frequency of GM1 gangliosidosis has been reported from Southern Brazil, and a large number of Japanese patients with the adult form have been reported. All 3 types of GM1 gangliosidosis are inherited as autosomal recessive traits and have equal sex distributions.

Keywords: Mucopolysachroid; Keratan sulphate; Dermal melanocytosis; Autosomal recessive

Citation: Madhu KJ, Vijyalakshmi IB, Narsimhan C, Manjunath CN (2016) Dysostosis Multiplex (Gm-1 Gangliosidosis: Type II). Cardiovasc Ther 1: 102.

Copyright: © 2016 Madhu KJ, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

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