GM1 Gangliosidosis

GM1 gangliosidosis is a lysosomal storage disorder caused by beta-galactosidase deficiency, leading to accumulation of GM1 gangliosides in neurons. Clinical features include developmental delay, hypotonia, hepatosplenomegaly, and progressive neurodegeneration. Pathophysiology involves lysosomal substrate accumulation, neuronal apoptosis, and impaired synaptic function. Diagnosis relies on enzyme assay, genetic testing, and neuroimaging. Management is supportive, focusing on symptom control and quality of life; prognosis is poor, with early-onset forms associated with rapid deterioration.