Meeting abstract
https://doi.org/10.26800/LV-145-supl2-CR54
Management of metabolic crisis in three-dayold newborn
Tea Kržak
; School of Medicine, University of Zagreb, Zagreb, Croatia
Lorena Loje Loje
Ivo Barić
Dorotea Ninković
Abstract
Urea cycle disorders are a group of metabolic disorders, caused by deficiency of one of the enzymes in the urea cycle, presenting with hyperammonemia
triggered by catabolism or protein overload. Newborns with severe mutations in the urea cycle, unless treated, rapidly develop cerebral edema, coma and death.
Keywords
hyperammonemia; ornithine transcarbamylase deficiency disease; urea cycle disorder
Hrčak ID:
303916
URI
Publication date:
23.4.2023.
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