urea cycle disorder

(redirected from Urea cycle defect)

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

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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 ?
But Billy became the first boy in the world to survive a urea cycle defect after having a pioneering operation when he was a week old.
The incidence of urea cycle defect ranges from 1 in 25,000 to 1 in 35,000.
After completeing his residency, Mark worked with a 13-year-old child who he discovered had urea cycle defect (an inborn error in metabolism).
Women who are carriers of the urea cycle defect are at risk for developing hyperammonaemia during the postpartum period.
Billy, who is no waged seven months, was born with a metabolic condition kno wn as urea cycle defect.
Billy, now seven months old, was born with urea cycle defect.
It includes Criggler Najjar syndrome (CNS), urea cycle defects and familial hypercholesterolaemia.
Acute encephalopathy due to hyperammonemia, is observed in urea cycle defects and many organic acidemias.
The differential diagnosis of hyperammonemia in the pediatric population includes transient hyperammonemia of the neonate and a large number of IEMs, including organicacidopathies, urea cycle defects, congenital lactic acidosis, and some aminoacidopathies (2).
By far the most common of the urea cycle defects is the X-linked recessive disorder, ornithine transcarbamylase deficiency (OTC).
The 119 patients suffered from three main categories of IEM, namely; amino acids and urea cycle defects, organic acid disorders, and fatty acid oxidation disorders.