A Case of GM 1 Gangliosidosis Type 2 Mimicking Zellweger Syndrome

Narendranath Reddy Ganampet; Poornima Jaiswal Charpuria; Praver Chandan Chemudupati Parven; Shresta Mary K; Dirgha Upendrabhai Patel; Smaran Kasireddy; Vishal Venugopal

Authors

Narendranath Reddy Ganampet
Poornima Jaiswal Charpuria
Praver Chandan Chemudupati Parven
Shresta Mary K
Dirgha Upendrabhai Patel
Smaran Kasireddy
Vishal Venugopal

Keywords:

GM1 gangliosidosis; lysosomal storage disease; beta-galactosidase

Abstract

Juvenile GM1-gangliosidosis, also known as type II or juvenile GM1-gangliosidosis, is an autosomal recessive lysosomal storage disorder that clinically differs from infantile GM1gangliosidosis in the absence of the characteristic cherry-red patch and hepatosplenomegaly. The disease is characterized by mild skeletal abnormalities and slowly progressing neurodegeneration. Due to the late age of onset and unusual presentation, diagnostic confusion with other ataxic and purely neurological disorders is common. There are currently 3-4 recognized types of GM1-gangliosidosis, with type I being the most prevalent phenotype with an average onset age of 6 months. Several subtypes of GM1-gangliosidosis are caused by mutations in the GLB1 gene, but the location and type of deleterious mutations have a direct impact on the severity of the disease and the age at which it manifests.

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How to Cite

A Case of GM 1 Gangliosidosis Type 2 Mimicking Zellweger Syndrome. (2023). Global Journal of Medical Research, 23(A3), 21-25. https://medicalresearchjournal.org/index.php/GJMR/article/view/102445

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References

Anna Caciotti, Scott Garman, Yadilette Rivera-Colón, Elena Procopio, Serena Catarzi, Lorenzo Ferri, Carmen Guido, Paola Martelli, Rossella Parini, Daniela Antuzzi, Roberta Battini, Michela Sibilio, Alessandro Simonati, Elena Fontana, Alessandro Salviati, Gulcin Akinci, Cristina Cereda, Carlo Dionisi-Vici, Francesca Deodato, Adele D'amico, Alessandra D'azzo, Enrico Bertini, Mirella Filocamo, Maurizio Scarpa, Maja Di Rocco, Cynthia Tifft, Federica Ciani, Serena Gasperini, Elisabetta Pasquini, Renzo Guerrini, Maria Donati, Amelia Morrone (2011) GM1 gangliosidosis and Morquio B disease: An update on genetic alterations and clinical findings. 1812(7), 782-790.

J Jarnes Utz, S Kim, K King, R Ziegler, L Schema, E Redtree (2017) Infantile gangliosidoses: mapping a timeline of clinical changes. 121, 170-179.

M Jeyakumar, R Thomas, E Elliot-Smith, D Smith, A Van Der Spoel, A Azzo, V Perry, T Butters, R Dwek, F Platt (2003) Central nervous system inflammation is a hallmark of pathogenesis in mouse models of GM1 and GM2 gangliosidosis. 126(4), 974-987.

Armstrong-Javors A Chu, C (2014) Child neurology: Exaggerated dermal melanocytosis in a hypotonic infant: a harbinger of GM1 gangliosidosis. 83(17), 166-168.

Leonhard Wolfe, Robert Senior, N Ng Ying Kin (1974) The Structures of Oligosaccharides Accumulating in the Liver of G1-Gangliosidosis, Type I. 249(6), 1828-1838.

Walter Acosta, Reid Martin, David Radin, Carole Cramer (2016) High-throughput imaging method for direct assessment of GM1 ganglioside levels in mammalian cells. 6, 1016-1022.

K Yoshida, A Oshima, M Shimmoto, Y Fukuhara, H Sakuraba, N Yanagisawa, Y Suzuki (1991) Human betagalactosidase gene mutations in GM1gangliosidosis: a common mutation among Japanese adult/chronic cases. 49(2), 435-442.