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
شماره ركورد
15023
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.
From Page
99
NaturalLanguageKeyword
Maple syrup urine disease , newborn , management
JournalTitle
Ege Journal Of Medicine
To Page
101
JournalTitle
Ege Journal Of Medicine
Link To Document