A Case of GM 1 Gangliosidosis Type 2 Mimicking Zellweger Syndrome

1
Narendranath Reddy Ganampet
Narendranath Reddy Ganampet
2
Poornima Jaiswal Charpuria
Poornima Jaiswal Charpuria
3
Praver Chandan Chemudupati Parven
Praver Chandan Chemudupati Parven
4
Shresta Mary K
Shresta Mary K
5
Dirgha Upendrabhai Patel
Dirgha Upendrabhai Patel
6
Smaran Kasireddy
Smaran Kasireddy
7
Vishal Venugopal
Vishal Venugopal
1 JJM Medical College, Davangere, India

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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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No external funding was declared for this work.

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The authors declare no conflict of interest.

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No ethics committee approval was required for this article type.

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Not applicable for this article.

Narendranath Reddy Ganampet. 2026. \u201cA Case of GM 1 Gangliosidosis Type 2 Mimicking Zellweger Syndrome\u201d. Global Journal of Medical Research - A: Neurology & Nervous System GJMR-A Volume 23 (GJMR Volume 23 Issue A3): .

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Juvenile G1-gangliosidosis case report overview.
Journal Specifications

Crossref Journal DOI 10.17406/gjmra

Print ISSN 0975-5888

e-ISSN 2249-4618

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GJMR-A Classification: NLM: WL 17, D009190 ACM: I.2.1
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v1.2

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August 2, 2023

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English

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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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A Case of GM 1 Gangliosidosis Type 2 Mimicking Zellweger Syndrome

Narendranath Reddy Ganampet
Narendranath Reddy Ganampet JJM Medical College, Davangere, India
Poornima Jaiswal Charpuria
Poornima Jaiswal Charpuria
Praver Chandan Chemudupati Parven
Praver Chandan Chemudupati Parven
Shresta Mary K
Shresta Mary K
Dirgha Upendrabhai Patel
Dirgha Upendrabhai Patel
Smaran Kasireddy
Smaran Kasireddy
Vishal Venugopal
Vishal Venugopal

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