Metachromatic Leucodystrophy: A Case Report
Metachromatic leukodystrophy (MLD) is a rare autosomal recessive inherited disease, which is caused by a deficiency in the enzyme activity of Arylsulfatase A (ARSA). Deficiency of this enzyme results in intralysosomal storage of sphingolipid cerebroside 3-sulfates (sulfatides), which are abundant i...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
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Karnali Academy of Health Sciences
2021-01-01
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| Series: | Journal of Karnali Academy of Health Sciences |
| Subjects: | |
| Online Access: | https://www.jkahs.org.np/jkahs/index.php/jkahs/article/view/399 |
| _version_ | 1797393295033237504 |
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| author | Ramchandra Bastola Shree Krishna Shrestha Amrita Ghimire Sunita Ghimire |
| author_facet | Ramchandra Bastola Shree Krishna Shrestha Amrita Ghimire Sunita Ghimire |
| author_sort | Ramchandra Bastola |
| collection | DOAJ |
| description |
Metachromatic leukodystrophy (MLD) is a rare autosomal recessive inherited disease, which is caused by a deficiency in the enzyme activity of Arylsulfatase A (ARSA). Deficiency of this enzyme results in intralysosomal storage of sphingolipid cerebroside 3-sulfates (sulfatides), which are abundant in myelin and neurons. Demyelination and neurodegeneration, causing multiple and ultimately lethal neurological symptoms is the hallmark of MLD. Though it is a rare disease of frequency 1/100,000 live birth, typical history and brain imaging is being reported here.
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| first_indexed | 2024-03-09T00:01:22Z |
| format | Article |
| id | doaj.art-e0397b97d4644fb6b7440b56b0afbbde |
| institution | Directory Open Access Journal |
| issn | 2616-0064 2676-1327 |
| language | English |
| last_indexed | 2024-03-09T00:01:22Z |
| publishDate | 2021-01-01 |
| publisher | Karnali Academy of Health Sciences |
| record_format | Article |
| series | Journal of Karnali Academy of Health Sciences |
| spelling | doaj.art-e0397b97d4644fb6b7440b56b0afbbde2023-12-12T18:48:57ZengKarnali Academy of Health SciencesJournal of Karnali Academy of Health Sciences2616-00642676-13272021-01-0133Metachromatic Leucodystrophy: A Case ReportRamchandra Bastola0Shree Krishna Shrestha1Amrita Ghimire2Sunita Ghimire3Department of Pediatrics, PAHS, Pokhara, Nepal Department of Pediatrics, PAHS, Pokhara, Nepal Department of Pediatrics, PAHS, Pokhara, Nepal Department of Pediatrics, PAHS, Pokhara, Nepal Metachromatic leukodystrophy (MLD) is a rare autosomal recessive inherited disease, which is caused by a deficiency in the enzyme activity of Arylsulfatase A (ARSA). Deficiency of this enzyme results in intralysosomal storage of sphingolipid cerebroside 3-sulfates (sulfatides), which are abundant in myelin and neurons. Demyelination and neurodegeneration, causing multiple and ultimately lethal neurological symptoms is the hallmark of MLD. Though it is a rare disease of frequency 1/100,000 live birth, typical history and brain imaging is being reported here. https://www.jkahs.org.np/jkahs/index.php/jkahs/article/view/399ARSA; MLD ; MRI |
| spellingShingle | Ramchandra Bastola Shree Krishna Shrestha Amrita Ghimire Sunita Ghimire Metachromatic Leucodystrophy: A Case Report Journal of Karnali Academy of Health Sciences ARSA; MLD ; MRI |
| title | Metachromatic Leucodystrophy: A Case Report |
| title_full | Metachromatic Leucodystrophy: A Case Report |
| title_fullStr | Metachromatic Leucodystrophy: A Case Report |
| title_full_unstemmed | Metachromatic Leucodystrophy: A Case Report |
| title_short | Metachromatic Leucodystrophy: A Case Report |
| title_sort | metachromatic leucodystrophy a case report |
| topic | ARSA; MLD ; MRI |
| url | https://www.jkahs.org.np/jkahs/index.php/jkahs/article/view/399 |
| work_keys_str_mv | AT ramchandrabastola metachromaticleucodystrophyacasereport AT shreekrishnashrestha metachromaticleucodystrophyacasereport AT amritaghimire metachromaticleucodystrophyacasereport AT sunitaghimire metachromaticleucodystrophyacasereport |