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Ege Journal of Medicine
2017, Cilt 56, Sayı 2, Sayfa(lar) 099-101
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Maple syrup urine disease with cranial imaging findings
Yusuf Kale1, Ece Karaoğlu2
1Gaziantep Kadın Doğum ve Çocuk Hastalıkları Hastanesi, Yenidoğan Ünitesi, Gaziantep, Türkiye
2Gaziantep Dr. Ersin Arslan Devlet Hastanesi, Radyoloji Kliniği, Gaziantep, Türkiye
Keywords: Maple syrup urine disease, newborn, management

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.

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