A Urea Cycle Disorder (UCD) is a genetic disorder that results in a deficiency of some major enzymes in the urea cycle. These enzymes are responsible for removing ammonia from the bloodstream.
The urea cycle involves a series of biochemical steps in which nitrogen, a waste product of protein metabolism is changed to a compound called urea and removed from the blood.
Normally, the area is removed from the body through the urine. In urea cycle disorders, nitrogen builds up in the blood in the form of ammonia, a highly toxic substance, resulting in hyperammonemia (elevated blood ammonia), by Urea Cycle Disorders Market
Ammonia then reaches the brain through the blood, where it can cause
irreversible brain damage, coma, and/or death. The onset and severity of urea
cycle disorders are highly variable. The severity correlates with the amount of
urea cycle enzyme function.
A few of the enzymes which are involved in the Urea Cycle Disorder, collectively known as inborn errors of urea synthesis, or a urea cycle enzyme defects; each is referred to by the initials of the missing enzyme:
CPS1
(Carbamoyl Phosphate Synthetase), NAGS (N-Acetylglutamate Synthetase), OTC
Deficiency (Ornithine Transcarbamylase), AS (Argininosuccinic Acid Synthetase
(Citrullinemia)), ASL (Argininosuccinate Lyase (Argininosuccinic Aciduria)),
and AG (Arginase).
In children with severe UCD, the symptoms will develop
within the first 24 hours of life. Symptoms in children with mild or moderate
UCD, who do not show symptoms until early childhood, may include Vomiting,
nausea, Mental confusion or hyperactive behavior, Tired often and/or hard to
awaken, Coma, etc.
Original Source:- Urea Cycle Disorders Market Report
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