منابع مشابه
Urea Cycle Disorder
RATIONALE. With no effective clearance system for ammonia, levels increase rapidly, resulting in cerebral edema with severe neurologic compromise. Dialysis is the only means of rapid removal of ammonia from blood in acute neonatal hyperammonemia, and hemodialysis is preferred over peritoneal dialysis because it is much more effective. If hemodialysis is not available, hemofiltration can be used...
متن کاملNonhepatic hyperammonemic encephalopathy due to undiagnosed urea cycle disorder.
Ornithine transcarbamoylase deficiency is the most common inherited urea cycle disorder. In adults, its phenotypes are diverse. In asymptomatic patients with late presentations, symptom onset is often associated with a precipitating factor. We present a case of a woman with urea cycle disorder diagnosed after an acute peptic ulcer bleed and fasting.
متن کاملHyperammonemia from a Urea Cycle Disorder Presenting in Adulthood
OBJECTIVE: The aim of this report is to describe a patient with late presentation of carbamyl phosphate synthetase I (CPS-I, EC 6.3.4.16) deficiency, a rare urea cycle deficiency, and to facilitate recognition and treatment of patients presenting with encephalopathy and hyperammonemia in a critical care setting. DESIGN: Case Report. SETTING: Intensive care unit of Saint Mary’s Hospital, Mayo Cl...
متن کاملUrea cycle disorders.
Most patients with urea cycle disorders who present as neonates, do so with deteriorating feeding, drowsiness and tachypnoea, following a short initial period when they appear well. The plasma ammonia should be measured at the same time as the septic screen in such patients. Ammonia levels above 200 micromol/l are usually caused by inherited metabolic diseases and it is essential to make a diag...
متن کاملThe Urea Cycle
Convention terminology. There follows a compilation of numerical abnormalities of chromosome constitution, again in order 1 to 22, X and Y. There is a table of syndromes associated with breakage syndromes. Associations of chromosome anomalies and cancer cell lines have been excluded. The preface contains seven tables, listing chromosome involved in polymorphisms, breakage, and aneuploidy syndro...
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ژورنال
عنوان ژورنال: Nature Biotechnology
سال: 2013
ISSN: 1087-0156,1546-1696
DOI: 10.1038/nbt0413-274