Multiple sulfatase deficiency is an autosomal recessive inborn error of metabolism resulting in tissue accumulation of sulfatides, sulfated glycosaminoglycans, sphingolipids, and steroid sulfates.
The different types of MSD can be distinguished according to the age of onset: neonatal, late infantile (0 to 2 years), and juvenile (2 to 4 years).
- Neonatal MSD is the most severe form with a broad range of mucopolysaccharidosis-like symptoms and death within the first year of life.
- Late-infantile MSD, which includes the majority of cases, resembles late-infantile metachromatic leukodystrophy with progressive loss of mental and motor abilities and skeletal changes. There is also an attenuated form of late-infantile MSD with onset beyond the second year of life.
- Rare cases of juvenile-onset MSD have been reported with onset of symptoms in late childhood and slower progression
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.
Life expectancy for Multiple Sulfatase Deficiency is commonly before 10 years of age.
Medical and Research Information
- OMIM – This link has technical information about the genetics of this disorder . It is a site developed for scientists and medical specialists and contains both general and highly technical information. Access to this site is free.
- Genetic and Rare Diseases Information Center (GARD) – a collaborative effort of two agencies the National Institutes of Health, The Office of Rare Diseases Research (ORD) and the National Human Genome Research