urea cycle disorder

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 ?
The company's initial pipeline includes synthetic biotic medicines for the treatment of rare genetic diseases, such as urea cycle disorder and phenylketonuria.
In addition, PRX-ASL is reportedly the second enzyme replacement therapy to receive orphan drug designation for a Urea Cycle Disorder, added the company.
Thankfully my parents found a wonderful organization called National Urea Cycle Disorder Foundation (NUCDF).
In this case, the patient presented with vague symptoms and a critical (>187 [micro]g/dL or >110 [micro]mol/L) plasma ammonia which raised suspicion for a urea cycle disorder (Fig.
HepaStem treatment has been shown to be safe in a phase 1/2 study in 20 urea cycle disorder patients.
A doctor from the medical team said that the boy was suffering from a urea cycle disorder, or a genetic disorder caused by a mutation that results in a deficiency of one of the six enzymes in the urea cycle.
We have started clinical experiments to test the effectiveness of this therapy in newborn children with inherited metabolic disorders, defect of liver metabolism and the first indication of urea cycle disorder.
OTC deficiency is the only X-linked urea cycle disorder (3).
Hyperammonemia is highly suggestive of a urea cycle disorder.
A urea cycle disorder is one of six genetic disorders causing an enzyme deficiency in the urea cycle.
Acer said it also intends to use the financing to support manufacturing and clinical development of ACER-001, a proprietary taste-masked, immediate-release formulation of sodium phenylbutyrate (NaPBA) for Maple Syrup Urine Disease (MSUD) and Urea Cycle Disorder (UCD), serious genetic diseases which impact amino acid and ammonia metabolism, respectively.