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Author

Ahmad Shahir Mohamad Nazri

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Open access Aug 2026

Infantile GM1 Gangliosidosis Presenting with Neuroregression and Leukodystrophy: A Case Report

GM1 gangliosidosis is a rare autosomal recessive lysosomal storage disorder caused by β-galactosidase deficiency, resulting in GM1 ganglioside accumulation. The infantile form presents early with developmental regression and hypotonia. We report a 20-month-old Malay girl with progressive neuroregression, macrocephaly,...

Khairunnisa Mohd Ansari, N. A. A. Che Soh, Noor Hafidah Hamran et al. · 0 citations

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