What is Multiple Sulfatase Deficiency?
Multiple sulfatase deficiency is an inherited metabolic disorder that is caused by an enzyme deficiency. The so called Formylglycine-Generating-Enzyme (FGE) that is encoded by the SUMF1 (Sulfatse Modifying Factor 1) gene activates a whole group of other enzymes (Sulfatases) in every cell of the body necessary for the breakdown of macromolecules in the Lysosome but also for other cellular functions. A defect in FGE results in impaired activation of Sulfatases resulting in cellular disfunction affecting all organs. Patients with Multiple Sulfatase Deficiency show a delayed psychomotor development, changes in stature and facial appearance due to affected bone growth, dry and scaly skin and a progressing decline of cognitive and motor abilities. MSD patients can have severe or less severe forms of the disease based on the molecular defect. They might show only a few symptoms but could display many symptoms at once from early on or only later in their life. So far there is no curative therapy for MSD. As it is a very rare disorder little is known about supporting therapies and only a few doctors have a deep understanding of the condition. This registry will definitely help to create an even better understanding of the condition with the data you provide.