Short answer · Medically reviewed summary · Last updated: 2023-07-13
Multiple Sulfatase Deficiency (MSD) is an extremely rare inherited metabolic disorder that affects the body's ability to break down certain molecules called sulfatides. This condition is caused by mutations in the SUMF1 gene, which is responsible for producing an enzyme called sulfatase-modifying factor 1. Due to its rarity, the prevalence of Multiple Sulfatase Deficiency is difficult to determine accurately.
What is the prevalence of Multiple Sulfatase Deficiency?
Prevalence of Multiple Sulfatase Deficiency: how many people are affected worldwide, differences by sex and region, with sources.
Multiple Sulfatase Deficiency (MSD) is an extremely rare inherited metabolic disorder that affects the body's ability to break down certain molecules called sulfatides. This condition is caused by mutations in the SUMF1 gene, which is responsible for producing an enzyme called sulfatase-modifying factor 1.
Due to its rarity, the prevalence of Multiple Sulfatase Deficiency is difficult to determine accurately. However, it is estimated to affect fewer than 1 in 1 million individuals worldwide. MSD is inherited in an autosomal recessive manner, meaning that both parents must carry a copy of the mutated gene for their child to be affected.
MSD typically presents in early infancy and is characterized by a wide range of symptoms, including developmental delay, progressive neurodegeneration, skeletal abnormalities, organ dysfunction, and impaired vision and hearing. Unfortunately, the prognosis for individuals with MSD is poor, as the condition is progressive and currently has no cure.
Given its rarity, raising awareness about Multiple Sulfatase Deficiency is crucial to support affected individuals and their families, promote research, and potentially develop future treatments.
