urea cycle disorder

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urea cycle disorder

Any disorder in which the body is unable to excrete waste nitrogen–ammonia–resulting in mental and behavioral dysfunction, coma, death

urea cycle disorder

,

UCD

Any of six inherited disorders in which an enzyme in the urea cycle is missing or nonfunctional, resulting in the accumulation of excess ammonia in the bloodstream. Lethargy, failure to thrive, nausea and vomiting, encephalopathy, and coma are common symptoms, esp. in newborns.
References in periodicals archive ?
Her clinical and research interests include inborn errors of metabolism, especially phenylketonuria, urea cycle disorders, and CNS complications of these disorders.
an independent non-profit that provides a financial lifeline for inadequately insured Americans, today announced its launch of a new fund to assist people living with urea cycle disorders (UCD).
Urea cycle disorders are commonly seen in the pediatric population.
Cytonet, Weinheim, Germany announced in January that the European Medicines Agency (EMA) has validated its Marketing Authorization Application (MAA) seeking approval of its liver cell therapy for the treatment of Urea Cycle Disorders (UCD) in children.
For the past several years, Cytonet has worked with internationally-leading metabolism and neonatal centers to study its liver cell therapy which uses healthy and metabolically functional human liver cells collected from donated livers not suitable for transplant for infusion to treat urea cycle disorders in children.
When the glucose status and the acid/base status are normal, as in this patient, urea cycle disorders are the most likely cause.
As per the reports, Hyperion Therapeutics, a biotech focused on the treatment of urea cycle disorders and hepatic encephalopathy, has announced terms for its IPO.
This close cooperation will facilitate the treatment of children who suffer from urea cycle disorders, which is a genetic disorder caused by a deficiency of an enzymes in the urea cycle responsible for removing ammonia from the blood stream thereby cleaning it of toxins.
Life-threatening pancreatitis has been reported in patients on valproate, and it is contraindicated in those with known urea cycle disorders.
There are six urea cycle disorders and although most are revealed in the first month of life symptoms may start at almost any age, and include convulsions, lethargy, poor feeding.