Multiple sulfatase deficiency

Multiple sulfatase deficiency (also known as "Austin disease," and "Mucosulfatidosis" ) is a very rare autosomal recessive lysosomal storage disease caused by a deficiency in multiple sulfatase enzymes. It is similar to mucopolysaccharidosis.

An association with SUMF1 has been described.

Presentation
The disease is fatal, with symptoms that include neurological damage and severe mental retardation. These sulfatase enzymes are responsbile for breaking down and recycling complex sulfate-containing sugars from lipids and mucopolysaccharides within the lysosome. The accumlation of lipids and mucopolysaccharides inside the lysosome results in symptoms associated with this disorder. Worldwide, forty cases of Multiple Sulfatase Deficiency have been reported to date.

Symptoms
Symptoms of this disorder commonly appear between one and two years of age. Symptoms include mildly coarsened facial features, deafness, ichthyosis and an enlarged liver and spleen (hepatosplenomegaly). Abnormalities of the skeleton, such as a curving of the spine and breast bone may occur. The skin of individuals afflicted with this disorder, is typically dry. Children affected by this disorder develop more slowly than normal and may display delayed speech and walking skills.