Author/Authors :
kale, yusuf gaziantep kadın doğum ve çocuk hastalıkları hastanesi - yenidoğan ünitesi, Türkiye , karaoğlu, ece gaziantep dr. ersin arslan devlet hastanesi - radyoloji kliniği, Türkiye
Title Of Article :
Maple syrup urine disease with cranial imaging findings
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.
NaturalLanguageKeyword :
Maple syrup urine disease , newborn , management
JournalTitle :
Ege Journal Of Medicine
