Multiple sulfatase deficiency is a rare metabolic disorder in which all of the known sulfatase enzymes are affected. Symptoms can include deafness, enlarged liver and spleen, curvature of the spine and other bone defects, dry and scaly skin, delayed development and deterioration of brain myelin (leukodystrophy). It is classified into three types: neonatal (most severe), late-infantile (most common), and juvenile (most rare).
It is caused by mutations in the human SUMF1 gene which encodes a formylglycine-generating enzyme required for posttranslational modification of all known sulfatases. Sulfatases break down sulfate-containing proteins including sugars, fats, hormones and mucopolysaccharides. The persistence and buildup of some sulfate-containing molecules is thought to lead to cell death which contributes to symptoms.
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