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Article

Clinical and molecular characterization of Krabbe disease in Iranian patients: case report and literature review.

BMC neurology - 27 Feb 2026

Asgari Parnia, Vahed Iman Elahi, Fateh Sahand Tehrani, Hashemi-Gorji Farzad, Ghasemi Mohammad-Reza, Mardi Ali, Tonekaboni Seyed Hassan, Miryounesi Mohammad, Salehpour Shadab

Abstract excerpt

Krabbe disease (KD, OMIM #245200) is a rare autosomal recessive lysosomal storage disorder characterized by severe demyelination affecting both the central and peripheral nervous systems. Here we report the clinical and molecular findings of two unrelated Iranian patients with KD, originating from consanguineous families. Genetic analysis was initially performed using whole-exome sequencing (WES), then validated...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 41761111
DOI: 10.1186/s12883-026-04694-y
PMCID: PMC13040988

Genes

GALC

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