Metachromatic Leukodystrophy Differential Diagnoses

Updated: Dec 10, 2019
  • Author: Theodore Moore, MD, MS; Chief Editor: Luis O Rohena, MD, MS, FAAP, FACMG  more...
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Diagnostic Considerations

As many as 1-2% of people may have low (5-15%) or reference range levels of arylsulfatase A in the serum, but sulfatide is not stored. These individuals are usually healthy and asymptomatic. The presence of normal urinary sulfatide levels (elevated in patients with metachromatic leukodystrophy [MLD]) distinguishes arylsulfatase A pseudodeficiency from metachromatic leukodystrophy. Arylsulfatase A pseudodeficiency may also be distinguished using gene mutation analysis or an evaluation of radiolabeled sulfatide fibroblast uptake and accumulation.

Other problems to consider include the following:

  • Schizophrenia

  • Antisocial personality disorder

  • X-linked adrenoleukodystrophy

  • Multiple sulfatase deficiency

Differential Diagnoses