Global Journal of Medical Research, A: Neurology & Nervous System, Volume 23 Issue 3

© 2023. Narendranath Reddy Ganampet, Poornima Jaiswal Charpuria, Praver Chandan Chemudupati Parven, Shresta Mary K, Dirgha Upendrabhai Patel & Smaran Kasireddy. This research/review article is distributed under the terms of the Attribution- NonCommercial-NoDerivatives 4.0 International (CC BY-NC-ND 4.0). You must give appropriate credit to authors and reference this article if parts of the article are reproduced in any manner. Applicable licensing terms are at https://creativecommons.org/licenses/by-nc-nd/4.0/. A Case of GM 1 Gangliosidosis Type 2 Mimicking Zellweger Syndrome By Narendranath Reddy Ganampet, Poornima Jaiswal Charpuria, Praver Chandan Chemudupati Parven, Shresta Mary K, Dirgha Upendrabhai Patel & Smaran Kasireddy 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 GM1- gangliosidosis 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. Keywords: GM1 gangliosidosis; lysosomal storage disease; beta-galactosidase. GJMR-A Classification: NLM: WL 17, D009190 ACM: I.2.1 ACaseofGM1GangliosidosisType2MimickingZellwegerSyndrome Strictly as per the compliance and regulations of: Global Journal of Medical Research: A Neurology & Nervous System Volume 23 Issue 3 Version 1.0 Year 2023 Type: Double Blind Peer Reviewed International Research Journal Publisher: Global Journals Online ISSN: 2249-4618 & Print ISSN: 0975-5888