Arylsulfatase A pseudodeficiency in Mexico: Enzymatic activity and haplotype analysis.

doi:10.1002/mgg3.1305

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Arylsulfatase A pseudodeficiency in Mexico: Enzymatic activity and haplotype analysis.

Molecular genetics & genomic medicine - 1 Aug 2020

Juárez-Osuna Jesús A, Mendoza-Ruvalcaba Sandra C, Porras-Dorantes Angela, Da Silva-José Thiago D, García-Ortiz José E

Abstract excerpt

BACKGROUND: Metachromatic Leukodystrophy (MLD, OMIM 250100) is a neurodegenerative disease caused by mutations in the ARSA gene (OMIM 607574) that lead to deficiency in Arylsulfatase A (ASA). ASA pseudodeficiency (PD-ASA) is a biochemical condition that substantially diminishes ASA activity but is not associated with clinical manifestations. PD-ASA is associated with the c.1055A>G (p.Asn352Ser) (rs2071421) and...

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PMID: 32431092
DOI: 10.1002/mgg3.1305
PMCID: PMC7434603

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ARSA

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