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

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, et al. (2018)
MOLECULAR GENETICS AND METABOLISM 123(3): 337-346.

Zeitschriftenaufsatz | Veröffentlicht| Englisch
 
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Autor/in
Ahrens-Nicklas, Rebecca; Schlotawa, Lars; Ballabio, Andrea; Brunetti-Pierri, Nicola; De Castro, Mauricio; Dierks, ThomasUniBi; Eichler, Florian; Ficicioglu, Can; Finglas, Alan; Gaertner, Jutta; Kirmse, Brian; Klepper, Joerg
Alle
Abstract / Bemerkung
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.
Stichworte
Multiple sulfatase deficiency; Leukodystrophy; Mucopolysaccharidoses; Consensus; Therapy; Care; Outcomes; Prevention
Erscheinungsjahr
2018
Zeitschriftentitel
MOLECULAR GENETICS AND METABOLISM
Band
123
Ausgabe
3
Seite(n)
337-346
ISSN
1096-7192
eISSN
1096-7206
Page URI
https://pub.uni-bielefeld.de/record/2919061

Zitieren

Ahrens-Nicklas R, Schlotawa L, Ballabio A, et al. Complex care of individuals with multiple sulfatase deficiency: Clinical cases and consensus statement. MOLECULAR GENETICS AND METABOLISM. 2018;123(3):337-346.
Ahrens-Nicklas, R., Schlotawa, L., Ballabio, A., Brunetti-Pierri, N., De Castro, M., Dierks, T., Eichler, F., et al. (2018). Complex care of individuals with multiple sulfatase deficiency: Clinical cases and consensus statement. MOLECULAR GENETICS AND METABOLISM, 123(3), 337-346. doi:10.1016/j.ymgme.2018.01.005
Ahrens-Nicklas, R., Schlotawa, L., Ballabio, A., Brunetti-Pierri, N., De Castro, M., Dierks, T., Eichler, F., Ficicioglu, C., Finglas, A., Gaertner, J., et al. (2018). Complex care of individuals with multiple sulfatase deficiency: Clinical cases and consensus statement. MOLECULAR GENETICS AND METABOLISM 123, 337-346.
Ahrens-Nicklas, R., et al., 2018. Complex care of individuals with multiple sulfatase deficiency: Clinical cases and consensus statement. MOLECULAR GENETICS AND METABOLISM, 123(3), p 337-346.
R. Ahrens-Nicklas, et al., “Complex care of individuals with multiple sulfatase deficiency: Clinical cases and consensus statement”, MOLECULAR GENETICS AND METABOLISM, vol. 123, 2018, pp. 337-346.
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, L.A.: Complex care of individuals with multiple sulfatase deficiency: Clinical cases and consensus statement. MOLECULAR GENETICS AND METABOLISM. 123, 337-346 (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, and Adang, Laura A. “Complex care of individuals with multiple sulfatase deficiency: Clinical cases and consensus statement”. MOLECULAR GENETICS AND METABOLISM 123.3 (2018): 337-346.

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Multiple Sulfatase Deficiency: A Case Series With a Novel Mutation.
Hijazi L, Kashgari A, Alfadhel M., J Child Neurol 33(13), 2018
PMID: 30124108

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