Please use this identifier to cite or link to this item: https://hdl.handle.net/11499/47903
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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