Metachromatic Leukodystrophy Differential Diagnoses

Updated: Jan 22, 2021
  • Author: Anna V Blenda, PhD; Chief Editor: Luis O Rohena, MD, PhD, FAAP, FACMG  more...
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Diagnostic Considerations

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

Other diagnoses to consider include the following:

  • Schizophrenia
  • Antisocial personality disorder
  • Multiple sulfatase deficiency [26]
  • Phelan-McDermid syndrome [27, 28]
  • Different adult-onset leukodystrophies [2, 20, 29]

Differential Diagnoses