Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
8343107 | Molecular Genetics and Metabolism | 2018 | 10 Pages |
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.
Keywords
Gastrojejunostomy tubeVSDECHOGMFCSPFOMBSCPAPEKGGAGhepatosplenomegalyGross Motor Functional Classification SystemHSMQOLMSDMLDG-tubeFLACCSEPDBSBiPAPFGEACCSUMF1UTIFormylglycine generating enzymeAEPLSDSLPMucopolysaccharidosesPedsQLQuality of lifeOAEobstructive sleep apneaConsensusLysosomal storage disorderAugmentative and alternative communicationElectroencephalogramelectrocardiogramMRInot doneCareechocardiogramOsadeep brain stimulationMagnetic resonance imagingcomputed tomographydual-energy X-ray absorptiometryGERTherapyGastroesophageal refluxauditory evoked potentialUrinary tract infectionsOutcomesUltrasoundModified barium swallowContinuous positive airway pressurebilevel positive airway pressureGastrostomy tubeLeukodystrophyMetachromatic leukodystrophyVentricular septal defectEEGFeesSpeech-language pathologySensory evoked potentialsPediatric Quality of Life InventoryPreventionMultiple sulfatase deficiencyGlycosaminoglycan
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Authors
Rebecca Ahrens-Nicklas, Lars Schlotawa, Andrea Ballabio, Nicola Brunetti-Pierri, Mauricio De Castro, Thomas Dierks, Florian Eichler, Can Ficicioglu, Alan Finglas, Jutta Gaertner, Brian Kirmse, Joerg Klepper, Marcus Lee, Amber Olsen, Giancarlo Parenti,