General Description

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

Life expectancy for Multiple Sulfatase Deficiency is commonly before 10 years of age.

The Hide and Seek Foundation and the UK MPS Society has some information on this disorder.

Medical and Research Information

Patient Support Groups

  • LDNZ – Lysosomal Diseases New Zealand is the support group for families in New Zealand.
  • MSD Action Foundation – a group set up by the family of Dylan who has MSD.