Extremely low arylsulfatase A enzyme activity does not necessarily cause symptoms: A long‐term follow‐up and review of the literature

Extremely low arylsulfatase A enzyme activity does not necessarily cause symptoms: A long‐term follow‐up and review of the literature

Abstract Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal storage disease caused by deficiency of arylsulfatase A (ARSA). Heterozygous carriers of disease‐causing variants and individuals harbouring pseudodeficiency alleles in the ARSA gene exhibit reduced ARSA activity. In the...

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Bibliographic Details
Main Authors: Lucia Laugwitz, Vidiyaah Santhanakumaran, Mareike Spieker, Judith Boehringer, Benjamin Bender, Volkmar Gieselmann, Stefanie Beck‐Woedl, Gernot Bruchelt, Klaus Harzer, Ingeborg Kraegeloh‐Mann, Samuel Groeschel
Format: Article
Language:English
Published: Wiley 2022-07-01
Series:JIMD Reports
Subjects:
ARSA
arylsulfatase A
MLD
MRI
newborn screening
ARSA pseudodeficiency
Online Access:https://doi.org/10.1002/jmd2.12293

Internet

https://doi.org/10.1002/jmd2.12293

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