Maple syrup urine disease with cranial imaging findings
Journal Title: Ege Tıp Dergisi - Year 2017, Vol 56, Issue 2
Abstract
Maple syrup urine disease (MSUD) also known as branched-chain ketoaciduria, is caused by a deficiency of branched-chain alpha-ketoacid dehydrogenase complex. It has autosomal recessive inheritance. It is characterized by irritability, feeding problems, vomiting, lethargy, dystonia and a maple syrup odor of the urine in newborn infants. Herein we aimed to report a case of MSUD with its MR imaging findings and to discuss the management for this case
Authors and Affiliations
Yusuf Kale, Ece Karaoğlu
Keywords
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- EP ID EP340628
- DOI 10.19161/etd.344253
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