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Title: | Diffusion weighted imaging and MR spectroscopic findings in maple syrup urine disease: The importance of early radiological diagnosis in the prevention of cerebral parenchymal damage | Authors: | Güney, Bünyamin Yeniçeri, İbrahim Önder Doğan, Emrah Akçay, Güven |
Keywords: | Diffusion weighted imaging Maple syrup urine disease MR spectroscopy 2 oxoisovalerate dehydrogenase (lipoamide) ammonia branched chain amino acid C reactive protein cefotaxime inositol isoleucine lactic acid leucine n acetylaspartic acid vancomycin Article artificial ventilation brain disease case report cerebrospinal fluid analysis clinical article diagnostic procedure diffusion weighted imaging echography glucose blood level human leukocyte male maple syrup urine disease mass spectrometry meningitis metabolic acidosis newborn newborn sepsis nuclear magnetic resonance imaging nuclear magnetic resonance spectroscopy peritoneal dialysis physical examination protein blood level pulse rate respiratory failure thorax radiography tonic seizure total parenteral nutrition transfontanelle cranial ultrasonography unconsciousness |
Publisher: | Medcom Limited | Abstract: | Maple Syrup Urine Disease is a very rare autosomal recessive inherited disease that results from the defect in the catalytic activity of the alpha ketoacid dehydrogenase enzyme complex. The deficiency in the catabolism of branched chain amino acids naturally results in the accumulation of these amino acids (leucine, isoleucine and valine) and toxic metabolic end products in human blood and urine. In this study, the importance in early diagnosis of cranial DWI imaging and MR spectroscopy and evaluation of treatment efficacy in a newborn who was referred to the emergency room with ketoacidotic coma was reported. © 2021, Medcom Limited. All rights reserved. | URI: | https://hdl.handle.net/11499/47903 | ISSN: | 1013-9923 |
Appears in Collections: | Scopus İndeksli Yayınlar Koleksiyonu / Scopus Indexed Publications Collection Tıp Fakültesi Koleksiyonu WoS İndeksli Yayınlar Koleksiyonu / WoS Indexed Publications Collection |
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