| Autor: |
Kathleen Doherty, S. Barron Frazier, Matthew Clark, Anna Childers, Sumit Pruthi, David A. Wenger, Jessica Duis |
| Jazyk: |
angličtina |
| Rok vydání: |
2019 |
| Předmět: |
|
| Zdroj: |
Molecular Genetics and Metabolism Reports, Vol 19, Iss , Pp - (2019) |
| Druh dokumentu: |
article |
| ISSN: |
2214-4269 |
| DOI: |
10.1016/j.ymgmr.2019.100460 |
| Popis: |
Metachromatic 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 |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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