Multiple Sulfatase Deficiency | Symptoms & Causes
What are the symptoms of multiple sulfatase deficiency?
Timing of symptoms depend on whether a child has neonatal, late-infantile, or juvenile multiple sulfatase deficiency. Symptoms may include:
- Seizures
- Developmental delay
- Movement problems
- Loss of developmental skills (developmental regression)
- Dry, scaly skin (ichthyosis)
- Excess hair growth (hypertrichosis)
- Skeletal abnormalities
- Distinct facial features (coarse facial features)
- Enlarged liver or spleen (hepatosplenomegaly)
What causes multiple sulfatase deficiency?
Multiple sulfatase deficiency is caused by mutations in the SUMF1 gene, which contains instructions for the production of an enzyme called formylglycine-generating enzyme (FGE). This enzyme is responsible for the modification of many other enzymes known as sulfatases. Sulfatases are located in the lysosomes of a cell and work to break down complex sugars and fats. Mutations in the SUMF1 gene result in lack of properly functioning FGE, which in turn leads to deficient production of sulfatase enzymes. This deficiency causes the abnormal accumulation of fats and sugars broken down by sulfatases in properly functioning cells, eventually leading to signs of disease.
This genetic condition is inherited in an autosomal recessive pattern. This means that an affected child has received one defective copy of the SUMF1 gene from each of their parents.
Multiple Sulfatase Deficiency | Diagnosis & Treatments
How is multiple sulfatase deficiency treated?
There are currently no approved therapies that reverse the effects of multiple sulfatase deficiency. Current approaches to multiple sulfatase deficiency involve interdisciplinary collaboration to provide supportive therapies and targeted management for specific symptoms.
How we care for multiple sulfatase deficiency
At the Boston Children’s Lysosomal Storage Disorder (BoLD) Program, our team of providers is committed to the care of complex patients. As part of Boston Children’s Hospital, we are prepared to meet the challenge of providing multifaceted care by partnering with you and your child to deliver direct care in our BoLD clinic. We work with the broad array of world-class specialists at Boston Children’s to optimize the care we provide your child with multiple sulfatase deficiency.
