Definition:
Multiple Sulfatase Deficiency is a rare, inherited metabolic disorder in which all sulfatase enzymes are deficient or do not work properly. These 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, and an enlarged liver and spleen. 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.

Inheritance Pattern:
Multiple Sulfatase Deficiency is an autosomal recessive disorder.

Life expectancy:
Life expectancy for Multiple Sulfatase Deficiency is commonly before 10 years of age.

Diagnosis and Testing:
A test is performed to measure elevated levels of mucopolysaccharides and others sugars in the urine. White blood cells or a cultured tissue sample are also meaured to detect low levels of the sulfatase enzymes. Prenatal testing is available if it is known that a family member is affected with Multiple Sulfatase Deficiency.

Treatment:
There is no cure for Multiple Sulfatase Deficiency. Treatment is limited to controlling or reducing the symptoms associated with this disorder. A hearing aid may improve hearing; physical and speech therapy may also help to improve the affected individual’s motor and speech skills. Rods can be surgically inserted in the spine to treat scoliosis.