Molecular genetics and metabolism · 2018
Complex care of individuals with multiple sulfatase deficiency: Clinical cases and consensus statement.
Клинический случайСтатьяПоддержка NIH: внешняя программаПоддержка исследования: вне правительства СШАПоддержка службы здравоохранения СШАConsensus StatementНазвание и аннотация: Перевод в очереди
Обработка статьи · этапы, ошибки и управление
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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
Аннотация
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 leukodystrophy (MLD), several mucopolysaccharidoses (MPS II, IIIA, IIID, IVA, VI), chondrodysplasia punctata, and X-linked ichthyosis. As such, individuals demonstrate a complex and severe clinical phenotype that has not been fully characterized to date. In this report, we describe two individuals with distinct clinical presentations of MSD. Also, we detail a comprehensive systems-based approach to the management of individuals with MSD, from the initial diagnostic evaluation to unique multisystem issues and potential management options. As there have been no natural history studies to date, the recommendations within this report are based on published studies and consensus opinion and underscore the need for future research on evidence-based outcomes to improve management of children with MSD.