Supplemental Material for: Case Report Renal Findings in GM1 Gangliosidosis: Clinical, Histopathologic, and Ultrastructural Evidence from a Case Report with Literature Review

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Introduction:GM1 gangliosidosis is a rare autosomal recessive lysosomal storage disorder caused by variants in theGLB1gene, leading to β-galactosidase deficiency and the accumulation of glycolipids and oligosaccharides. While neurological and systemic complications are well-documented, renal involvement remains poorly understood and largely unreported. This report aims to present the first detailed description of clinical and histopathologic renal findings in GM1-gangliosidosis, supported by comprehensive microscopic and ultrastructural analysis. Case Presentation:We describe a male infant with infantile-onset GM1-gangliosidosis, diagnosed based on clinical features, including developmental regression, severe hypotonia, macular cherry-red spots, and molecular confirmation ofGLB1variants. Throughout his clinical course, the patient developed hypoalbuminemia, nephrotic-range proteinuria, and pseudohyponatremia. Postmortem kidney biopsy revealed widespread vacuolization in glomerular podocytes, mesangial cells, and renal tubular cells. Vacuoles were negative for periodic acid-Schiff and methenamine silver stains. Ultrastructural analysis confirmed cytoplasmic vacuolization containing membranous and lamellar material. These findings are consistent with lysosomal storage pathology. Conclusion:This report highlights the severe histopathological and clinical renal manifestations of GM-1 gangliosidosis. This case underscores the need for further studies to better understand the mechanisms of renal pathology and their clinical implications in GM1-gangliosidosis, broadening the systemic understanding of this disease.

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