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Article

Complex care of individuals with multiple sulfatase deficiency: Clinical cases and consensus statement.

Molecular genetics and metabolism - 1 Mar 2018

Ahrens-Nicklas Rebecca, Schlotawa Lars, Ballabio Andrea, Brunetti-Pierri Nicola, De Castro Mauricio, Dierks Thomas, Eichler Florian, Ficicioglu Can, Finglas Alan, Gaertner Jutta, Kirmse Brian, Klepper Joerg, Lee Marcus, Olsen Amber, Parenti Giancarlo, Vossough Arastoo, Vanderver Adeline, Adang Laura A

Abstract excerpt

Multiple sulfatase deficiency (MSD) is an ultra-rare neurodegenerative disorder that results in defective sulfatase post-translational modification. Sulfatases in the body are activated by a unique protein, formylglycine-generating enzyme (FGE) that is encoded by SUMF1. When FGE is absent or insufficient, all 17 known human sulfatases are affected, including the enzymes associated with metachromatic...

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Identifiers

PMID: 29397290
DOI: 10.1016/j.ymgme.2018.01.005
PMCID: PMC6856873

Genes

SUMF1

Provenance

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