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Multiple Sulfatase Deficiency
Multiple sulfatase deficiency (MSD) is a rare disorder characterized by impaired activity of all known sulfatases. Thus MSD results in features associated with deficiencies of single sulfatases: mucopolysaccharidosis II (Hunter syndrome), IIA (Sanfilippo syndrome A), IIID (Sanfilippo syndrome D), IVA (Morquio syndrome A) and VI (Maroteaux-Lamy syndrome), metachromatic leukodystrophy, X-linked ichthyosis and X-linked recessive chondrodysplasia punctata. MSD is associated with a broad range of symptoms that have been classified into four clinical forms. The severe neonatal form of MSD is diagnosed in the first months of life with coarse facies, cataract and hydrocephalus; death usually ensues within the first year. The severe late-infantile form of MSD has onset within the first year of life with neurological problems similar to late-infantile metachromatic leukodystrophy. Mild-late onset MSD is the more common presentation, characterized with onset of symptoms between 2 years and 4 years with facial dysmorphism, visceromegaly, dysostosis multiplex, cardiomyopathy and milder and slower neurodegeneration including vision and hearing loss. Juvenile MSD is a rare subtype that is associated with only a few of the MSD symptoms, such as ichthyosis and intellectual disability. The prevalence of MSD has been estimated at less than 1 in 1,000,000 births.
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Zou et al. Whole exome sequencing: an effective and comprehensive genetic testing approach for leukodystrophy [abstract submitted] To be presented at the 2017 ASHG Annual Genetics Meeting, October 17-21, Orlando, FL.