In deficiency states, the galactosyl sulfatide accumulates in lysosomes in white matter and peripheral nerves. The enzyme is also deficient in multiple sulfatase deficiency, a rare disorder presenting with characteristics of a mucopolysaccharidosis. Our protocol utilizes a synthetic substrate, p -nitrocatecholsulfate. Activity is determined by measuring the free p -nitrocatechol released. Turn around time is 3-5 days.
Prenatal diagnosis is possible with amniotic fluid cells or cultured chorionic villus cells.
The presence of a relatively common pseudodeficiency allele may complicate prenatal diagnosis. This requires that parents of affected must be examined before prenatal diagnosis is undertaken. Prior contact with the laboratory is required before submitting any samples for prenatal diagnosis. 10 ml Heparinized whole blood, green top tube. Ship whole blood on wet ice, overnight.