Abstract:
: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.
journal_name
Mol Genet Metabjournal_title
Molecular genetics and metabolismauthors
Ahrens-Nicklas R,Schlotawa L,Ballabio A,Brunetti-Pierri N,De Castro M,Dierks T,Eichler F,Ficicioglu C,Finglas A,Gaertner J,Kirmse B,Klepper J,Lee M,Olsen A,Parenti G,Vossough A,Vanderver A,Adang LAdoi
10.1016/j.ymgme.2018.01.005subject
Has Abstractpub_date
2018-03-01 00:00:00pages
337-346issue
3eissn
1096-7192issn
1096-7206pii
S1096-7192(17)30759-Xjournal_volume
123pub_type
杂志文章abstract::Gaucher disease is caused by the defective catabolism of the simple glycosphingolipid, glucosylceramide (GlcCer), due to mutations in the GBA1 gene which encodes for acid β-glucosidase (GCase), the lysosomal enzyme that degrades GlcCer. Today, Gaucher disease patients are routinely treated with recombinant GCase, in a...
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pub_type: 共识发展会议,杂志文章,实务指引
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