| Autor: |
Mroch, Amelia, Davis-Keppen, Laura, Matthes, Cindy, Stein, Quinn |
| Zdroj: |
South Dakota Medicine; Apr2014, Vol. 67 Issue 4, p141-143, 3p |
| Abstrakt: |
Maple syrup urine disease (MSUD) is an organic acidemia detected on newborn screening. The condition has been reported with increased frequency in certain founder populations including Hutterites. We present a case of MSUD in a Hutterite boy. Mutation analysis was completed and identified a candidate founder mutation in the BCKDHB gene, specifically c.595_596delAG. Further testing of other Hutterites with MSUD is needed to determine whether additional mutations may exist. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Supplemental Index |
| Externí odkaz: |
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