GM1 Gangliosidosis

GM1 gangliosidosis is a systemic disorder. The mutating gene coding for the enzyme P-galactosidase is located on chromosome 3. Deficiency of the enzyme results in the accumulation of GM1 gangliosides in the neurons. In the infantile form, the neuronal storage is associated with storage of oligosaccharides and keratan sulfate in the viscera and vascular endothelium. Facial dysmor-phism, skeletal anomalies, and hepatomegaly are characteristic features, resembling Hurler's disease. Vac-uolated lymphocytes occur in circulating blood. Oligo-saccharides and keratan sulfate are excreted in the urine. The pathology is characterized by the presence of foamy macrophages storing PAS-positive material in the liver, spleen, lung, lymph nodes, and bone marrow. Neuronal storage of gangliosides is ubiquitous and is also present in the glial cells. In adults, the basal ganglia are chiefly affected.

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