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Article

Biochemical and molecular analysis of pediatric patients with metachromatic leukodystrophy in South China: functional characterization of five novel ARSA variants.

Metabolic brain disease - 1 Jun 2024

Li Taolin, Huang Yonglan, Tao Chunyan, Yin Xi, Su Xueying, Shao Yongxian, Liang Cuili, Jiang Minyan, Cai Yanna, Lin Yunting, Zeng Chunhua, Zhao Xiaoyuan, Liu Li, Zhang Wen

Abstract excerpt

Metachromatic leukodystrophy (MLD) is a rare hereditary neurodegenerative disease caused by deficiency of the lysosomal enzyme arylsulfatase A (ARSA). This study described the clinical and molecular characteristics of 24 Chinese children with MLD and investigated functional characterization of five novel ARSA variants. A retrospective analysis was performed in 24 patients diagnosed with MLD at Guangzhou Women and...

Topics

Humans
Leukodystrophy, Metachromatic
Cerebroside-Sulfatase
Female
Male
Child, Preschool
Child
China
Infant
Retrospective Studies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

Adolescent

Mutation, Missense

Source

Identifiers

PMID: 38775997
DOI: 10.1007/s11011-024-01348-1

Genes

ARSA

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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Biochemical and molecular analysis of pediatric patients with metachromatic leukodystrophy in South China: functional characterization of five novel ARSA variants.PMID 38775997Read ↗

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