Inborn urea cycle disorder
Overview
Inborn urea cycle disorder: A genetic disorder involving a deficiency of one of the enzymes needed in the urea cycle. The urea cycle is the process of removing ammonia from blood stream by converting it to urea and excreting it via urine. A build-up of ammonia in the blood is toxic to the body and can cause serious brain damage. The progressively severe symptoms usually become obvious within the first few weeks of birth. Nevertheless, mild or partial enzyme deficiencies may cause little or no symptoms or symptoms that don't start until later in life.
Symptoms
The list of signs and symptoms mentioned in various sources for Inborn urea cycle disorder includes the 30 symptoms listed below: * Urea cycle enzyme deficiency * Mental retardation * Brain damage * Coma * Irritability * Feeding problems * Vomiting * Progressive lethargy * Seizures * Reduced muscle tone * Respiratory distress * Respiratory alkalosis * Increased blood ammonia level * Failure to thrive * Constant infant crying * Agitation * Hyperactive behavior * Self-injury * Screaming * Dislike of eating meat * Dislike of eating high protein foods * Lethargy * Delirium * Retarded growth * Spastic tetraplegia * Psychomotor retardation * Encephalopathy * Acidosis * Movement disorders * Low blood sugar
Causes
* Acidosis * Agitation * Brain damage * Coma * Delirium * Encephalopathy * Failure to thrive * Feeding problems * Irritability * Lethargy * Low blood sugar * Mental retardation * Movement disorders * Psychomotor retardation * Reduced muscle tone * Respiratory distress * Retarded growth * Seizures * Vomiting