Table 2.

Disorders Considered in the Differential Diagnosis of Arylsulfatase A Deficiency

DisorderAge at OnsetMain Clinical ManifestationsUrinary ExcretionEnzyme Activity
Multiple sulfatase deficiency1-4 years, probably variableMLD-like clinical picture, with elevated CSF protein and slowed nerve conduction velocity; MPS-like features, and ichthyosisElevated sulfatide and mucopolysaccharidesVery low ARSA enzyme activity; deficiency of most sulfatases in leukocytes or cultured cells 1
Saposin B deficiencyVariableMLD-like clinical pictureElevated sulfatide and other glycolipidsARSA enzyme activity within normal range

Including arylsulfatase B, arylsulfatase C, iduronate sulfatase (deficient in Hunter syndrome), and heparan-N-sulfamidase

From: Arylsulfatase A Deficiency

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