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Article

A systematic cross-sectional survey of multiple sulfatase deficiency.

Molecular genetics and metabolism - 1 Aug 2020

Cappuccio Gerarda, Alagia Marianna, Brunetti-Pierri Nicola

Abstract excerpt

Multiple Sulfatase Deficiency (MSD) is an inborn error of metabolism caused by pathogenic variants in the SUMF1 gene encoding the formylglycine-generating enzyme (FGE) that activates all known sulfatases. FGE deficiency results in widespread tissue accumulation of multiple sulphated substrates. Through a systematic analysis of published cases, we retrieved 80 MSD cases and reviewed the disease clinical,...

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Identifiers

PMID: 32620537
DOI: 10.1016/j.ymgme.2020.06.005

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