CLASSIC MAPLE SYRUP URINE DISEASE IN A 46-DAY-OLD BABY: A CASE REPORT
Maple syrup urine disease (MSUD) is an inborn error of amino acid metabolism secondary to enzyme defect that breaks down branched-chain amino acid (BCAA). Accumulation of these amino acids and their corresponding ketoacids in the body progresses to neurodegenerative disorders and encephalopathy in u...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Khyber Medical University
2018-03-01
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| Series: | Khyber Medical University Journal |
| Subjects: | |
| Online Access: | http://www.kmuj.kmu.edu.pk/article/view/18005/pdf |