A closer look at ARSA activity in a patient with metachromatic leukodystrophy
| Autor: | Matthew Clark, S. Barron Frazier, Jessica Duis, Sumit Pruthi, David A. Wenger, Kathleen M. Doherty, Anna Childers |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2019 |
| Předmět: |
Arylsulfatase A
medicine.medical_specialty Case Report Lysosomal storage disease Gastroenterology 03 medical and health sciences 0302 clinical medicine Endocrinology Internal medicine Genetics medicine Missense mutation Molecular Biology lcsh:QH301-705.5 0303 health sciences lcsh:R5-920 business.industry 030305 genetics & heredity Leukodystrophy Inborn error of metabolism Metachromatic Leukodystrophy medicine.disease Hypotonia Metachromatic leukodystrophy lcsh:Biology (General) medicine.symptom business lcsh:Medicine (General) Developmental regression 030217 neurology & neurosurgery |
| Zdroj: | Molecular Genetics and Metabolism Reports Molecular Genetics and Metabolism Reports, Vol 19, Iss, Pp-(2019) |
| ISSN: | 2214-4269 |
| 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: | OpenAIRE |
| Externí odkaz: |
|