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Article

A novel homozygous PSAP mutation identified by whole exome sequencing in a consanguineous family with metachromatic leukodystrophy: a case report.

The Journal of international medical research - 1 Nov 2024

Li Xueyi, Kuang Xiaoni, Huang Guangwen, Liu Zhenyu, Yan Shuyuan

Abstract excerpt

Metachromatic leukodystrophy (MLD) is a genetic lysosomal disease. Here, we investigated the role of prosaposin (PSAP) gene mutations in MLD. This current case report describes a female patient who presented with motor development regression at two years and five months of age. The symptoms included difficulty walking, loss of ambulation, increased muscle tension, limb pain, and intentional tremors. Brain...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 39612318
DOI: 10.1177/03000605241301877
PMCID: PMC11607745

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