What Your Test Results Mean:

Carriers typically show no symptoms of multiple sulfatase deficiency; however, carriers are at an increased risk of having a child with multiple sulfatase deficiency. Risk for the current or future pregnancies is dependent on your partner’s carrier status. Carrier testing of your partner is recommended in addition to consultation with a genetic counselor.

Disease Explained:

Multiple sulfatase deficiency is an inherited lysosomal storage disorder. The disorder prevents the cells in the body from properly processing a group of enzymes called sulfatases, which help to break down substances containing sulfates, including a variety of sugars, fats, and hormones. The symptoms of this disease include developmental delay, psychomotor regression, dry skin, and skeletal abnormalities and can appear anytime from infancy (neonatal) to late childhood (juvenile). Individuals with the more severe, neonatal type may also have seizures, hearing loss, heart malformations, enlarged liver and spleen, and coarse facial features. This disease does shorten life expectancy; affected individuals generally survive only a few years after symptoms appear.

How the Genetics Works:

Multiple sulfatase deficiency is an autosomal recessive disorder caused by pathogenic variants in the SUMF1 gene. In general, individuals have two copies of the SUMF1 gene. Carriers of multiple sulfatase deficiency have a single variant in one copy of the SUMF1 gene while individuals with multiple sulfatase deficiency have variants in both copies of their genes, one inherited from each parent. Risk for two carriers to have a child with the disorder is 25%.