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Article

Natural history of multiple sulfatase deficiency: Retrospective phenotyping and functional variant analysis to characterize an ultra-rare disease.

Journal of inherited metabolic disease - 1 Nov 2020

Adang Laura A, Schlotawa Lars, Groeschel Samuel, Kehrer Christiane, Harzer Klaus, Staretz-Chacham Orna, Silva Thiago Oliveira, Schwartz Ida Vanessa D, Gärtner Jutta, De Castro Mauricio, Costin Carrie, Montgomery Esperanza Font, Dierks Thomas, Radhakrishnan Karthikeyan, Ahrens-Nicklas Rebecca C

Abstract excerpt

Multiple sulfatase deficiency (MSD) is an ultra-rare neurodegenerative disorder caused by pathogenic variants in SUMF1. This gene encodes formylglycine-generating enzyme (FGE), a protein required for sulfatase activation. The clinical course of MSD results from additive effect of each sulfatase deficiency, including metachromatic leukodystrophy (MLD), several mucopolysaccharidoses (MPS II, IIIA, IIID, IIIE, IVA,...

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Identifiers

PMID: 32749716
DOI: 10.1002/jimd.12298
PMCID: PMC7693296

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Natural history of multiple sulfatase deficiency: Retrospective phenotyping and functional variant analysis to characterize an ultra-rare disease.PMID 32749716Read ↗

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