pseudodeficiency
nounEtymology From pseudo- + deficiency.
1
An apparent deficiency
- Exclusion of other rare demyelinating disorders (with coincidental ARSA pseudodeficiency carriage) is typically achieved by the demonstration of hyper-excretion of accumulating substrate (urine sulfatide assessment), pathognomonic histopathology on nervous tissue biopsy, or/and presence of causative ARSA mutations on molecular analysis.2015 August 7, Alexander A. Boucher et al., “Long-term outcomes after allogeneic hematopoietic stem cell transplantation for metachromatic leukodystrophy: the largest single-institution cohort report”, in Orphanet Journal of Rare Diseases, volume 10, →DOI: