MSD is a rare genetic disease due to mutations in the SUMF1 gene. It is an autosomal recessive disorder, so both parents must be carriers and pass it on to their child. SUMF1 is involved in the development of formylglycine-generating enzyme (FGE) and absence of that enzyme leads to the buildup of glycosaminoglycans in cells and organs. 

There are different subtypes of MSD: neonatal, late-infantile, and juvenile. The neonatal form is the most severe and can present in utero or at birth. These children decline very rapidly and often die during the first two years of life. Late-infantile is the most common form. These children have normal cognitive development in the beginning of life, but gradually begin to regress and lose skills. Juvenile MSD is the rarest type. They do not show signs or symptoms until middle to late childhood and generally  have a slower loss of skills.

Brenna Bentley , MS, GCG, a genetic counselor working for the United MSD Foundation provides an overview of multiple sulfatase deficiency (MSD).

MSD is a progressive disease and there are currently no treatments for this rare disease.

The United MSD foundation is a patient advocacy group dedicated to pursuing treatment and advocacy for MSD.

To learn more about MSD and other lysosomal disorders, visit checkrare.com/diseases/lysosomal-storage-disorders/