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A closer look at ARSA activity in a patient with metachromatic leukodystrophy

dc.contributor.authorDoherty, Kathleen
dc.contributor.authorFrazier, S. Barron
dc.contributor.authorClark, Matthew
dc.contributor.authorChilders, Anna
dc.contributor.authorPruthi, Sumit
dc.contributor.authorWenger, David A.
dc.contributor.authorDuis, Jessica
dc.identifier.citationDoherty, K., Frazier, S. B., Clark, M., Childers, A., Pruthi, S., Wenger, D. A., & Duis, J. (2019). A closer look at ARSA activity in a patient with metachromatic leukodystrophy. Molecular genetics and metabolism reports, 19, 100460.
dc.identifier.othereISSN: 2214-4269
dc.description.abstractMetachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal storage disease mainly caused by a deficiency of arylsulfatase A activity. The typical clinical course of patients with the late infantile form includes a regression in motor skills with progression to dysphagia, seizures, hypotonia and death. We present a case of a 4-year-old female with rapidly progressive developmental regression with loss of motor milestones, spasticity and dysphagia. MRI showed volume loss and markedly abnormal deep white matter. Enzymatic testing in one laboratory showed arylsulfatase A activity in their normal range. However, extraction of urine showed a large increase in sulfatide excretion in a second laboratory. Measurement of arylsulfatase A in that laboratory showed a partial decrease in arylsulfatase A activity measured under typical conditions (about 37% of the normal mean). When the concentration of substrate in the assay was lowered to one quarter of that normally used, this individual had activity<10% of controls. The patient was found to be homozygous for an unusual missense mutation in the arylsulfatase A gene confirming the diagnosis of MLD. This case illustrates the importance of careful biochemical and molecular testing for MLD if there is suspicion of this diagnosis.en_US
dc.description.sponsorshipThis research did not receive any specific grant from funding agencies in the public, commercial, or not-for-profit sectors.en_US
dc.publisherMolecular Genetics and Metabolism Reportsen_US
dc.rightsThis is an open access article under the CC BY-NC-ND license (
dc.subjectMetachromatic Leukodystrophyen_US
dc.subjectArylsulfatase Aen_US
dc.subjectLysosomal storage diseaseen_US
dc.subjectInborn error of metabolismen_US
dc.titleA closer look at ARSA activity in a patient with metachromatic leukodystrophyen_US

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