mucosulfatidosis; multiple sulfatase deficiency; Austin variant of metachromatic leukodystrophy

Pathology: 1) defective post-translational modification & activation of all sulfatases 2) deposits of metachromatic sulfatides in: a) white matter of brain b) peripheral nerves. 3) neurons ballooned by storage of ganglioside like substance 4) 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 a) metachromatic leukodystrophy b) mucopolysaccharidosis c) chondrodysplasia punctata d) hydrocephalus e) ichthyosis f) neurologic deterioration g) developmental delay Laboratory: - impairment of all sulfatases - cerebroside sulfatase in leukocytes

Related

arylsulfatase-A (cerebroside sulfatase, [contains: arylsulfatase A component B; arylsulfatase A component C], ARSA) arylsulfatase-B (ARSB, chondro-4-sulfatase, N-acetylgalactosamine-4-sulfatase) arylsulfatase-C (steryl-3-sulfatase, steroid sulfatase, ASC, STS ARSC1) ganglioside mucopolysaccharide sulfatide; galactocerebroside sulfate

Properties

ACCUMULATION: sulfatide CERAMIDE-LACTOSIDE ganglioside mucopolysaccharide DEFICIENCY: aryl sulfatase-A aryl sulfatase-B aryl sulfatase-C