caa a22 4500 467933596 CHVBK 20180406152950.0 cr unu---uuuuu 170328e20060801xx s 000 0 eng 10.1007/s10545-006-0303-2 doi (NATIONALLICENCE)springer-10.1007/s10545-006-0303-2 Ornithine transcarbamoylase deficiency presenting with acute liver failure [Elektronische Daten] [Ahlam Mustafa, Joe Clarke] Summary: Ornithine transcarbamoylase (OTC) deficiency is the most common hereditary urea cycle disorder. It is an X-linked recessive disorder that usually presents with encephalopathy and hyperammonaemia. We report a 14-month-old female carrier of OTC deficiency, who presented with a history of intermittent vomiting for 5 weeks and irritability and lethargy for 1 week. She was found to be in acute liver failure, with elevated transaminases, coagulopathy and a consistently low urea. Identifying an OTC mutation and ruling out other possible causes of acute hepatic failure confirmed the diagnosis. She was placed on low-protein diet supplemented with essential amino acids, and her liver enzymes, hyperammonaemia and coagulopathy corrected. Three other female patients have been reported with OTC deficiency presenting with severe cryptogenic hepatitis; our patient is unique in that the presentation of her disease was dominated by acute liver failure on a back ground of normal growth and development, no liver enlargement, and mild hyperammonaemia. OTC deficiency should be considered in the differential diagnosis of infants presenting with acute hepatocellular dysfunction, especially in females. SSIEM and Springer, 2006 Mustafa Ahlam Alberta Children's Hospital, University of Calgary, Calgary, Alberta, Canada aut Clarke Joe Alberta Children's Hospital, University of Calgary, Calgary, Alberta, Canada aut Journal of Inherited Metabolic Disease Kluwer Academic Publishers 29/4(2006-08-01), 586-586 0141-8955 29:4<586 2006 29 10545 https://doi.org/10.1007/s10545-006-0303-2 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s10545-006-0303-2 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Mustafa Ahlam Alberta Children's Hospital, University of Calgary, Calgary, Alberta, Canada aut NATIONALLICENCE 700 1- Clarke Joe Alberta Children's Hospital, University of Calgary, Calgary, Alberta, Canada aut NATIONALLICENCE 773 0- Journal of Inherited Metabolic Disease Kluwer Academic Publishers 29/4(2006-08-01), 586-586 0141-8955 29:4<586 2006 29 10545 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer