mucosulfatidosis; multiple sulfatase deficiency; Austin variant of metachromatic leukodystrophy

Pathology

• defective post-translational modification & activation of all sulfatases
• deposits of metachromatic sulfatides in:
  • white matter of brain
  • peripheral nerves.
• neurons ballooned by storage of ganglioside like substance
• deposits of ganglioside like substance in liver, spleen & kidney

Genetics

• autosomal recessive
• associated with defects in SUMF1 gene

Clinical manifestations

• combines features of individual sulfatase deficiencies
  • metachromatic leukodystrophy
  • mucopolysaccharidosis
  • chondrodysplasia punctata
  • hydrocephalus
  • ichthyosis
  • neurologic deterioration
  • developmental delay

Laboratory

• impairment of all sulfatases
  • cerebroside sulfatase in leukocytes

More general terms

• sulfatidosis

Database

• OMIM: https://mirror.omim.org/entry/272200