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Article

Spectrum of Genetic Mutations Among Iranian Patients with Gangliosidosis.

Biochemical genetics - 1 Feb 2026

Khalilian Sheyda, Fathi Mohadeseh, Alizadeh Mona, Larki Darabi Fatemeh, Salehpour Shadab, Anvari Saeed, Miryounesi Mohammad, Ghafouri-Fard Soudeh

Abstract excerpt

Gangliosidosis is a hereditary metabolic disorder inherited in an autosomal recessive manner. This disorder is marked by the accumulation of gangliosides in the central nervous system, leading to considerable and progressive neurological deficits. In the current study, we described the clinical findings and genetic variations observed in 12 patients manifesting symptoms of gangliosidosis disorders. The results of...

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Identifiers

PMID: 40172712
DOI: 10.1007/s10528-025-11090-7

Genes

HEXB
GLB1
HEXA

Variants

Provenance

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