Extremely low arylsulfatase A enzyme activity does not necessarily cause symptoms: A long-term follow-up and review of the literature.
ARSA
ARSA pseudodeficiency
MLD
MRI
arylsulfatase A
newborn screening
Journal
JIMD reports
ISSN: 2192-8304
Titre abrégé: JIMD Rep
Pays: United States
ID NLM: 101568557
Informations de publication
Date de publication:
Jul 2022
Jul 2022
Historique:
received:
02
02
2022
revised:
04
04
2022
accepted:
19
04
2022
entrez:
13
7
2022
pubmed:
14
7
2022
medline:
14
7
2022
Statut:
epublish
Résumé
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
Identifiants
pubmed: 35822086
doi: 10.1002/jmd2.12293
pii: JMD212293
pmc: PMC9259399
doi:
Types de publication
Journal Article
Langues
eng
Pagination
292-302Informations de copyright
© 2022 The Authors. JIMD Reports published by John Wiley & Sons Ltd on behalf of SSIEM.
Déclaration de conflit d'intérêts
The authors declare that they have no competing interests. Samuel Groeschel received institutional research support from Shire plc. He is advisor and coinvestigator for trials in MLD (Shire/Takeda, Orchard, Bioclinica), but receives no personal payment related to this role. Ingeborg Kraegeloh‐Mann received travel funds from Shire/Takeda. Outside the submitted work, Benjamin Bender is co‐founder and shareholder of AIRAmed GmbH.
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