Urea Cycle: Fill & Download for Free

A urea cycle disorder is a genetic disorder caused by mutation that results in the deficiency of one of the six enzymes of the urea cycle.In infants, initial symptoms include failure to feed, loss of thermoregulation and somnolence. As the symptoms progress the somnolence changes to coma, and in some cases death. About 50% infants with severe urea cycle disorder suffer from seizures.In adults, with Mild Urea Cycle Enzyme Deficiencies the symptoms include sleep disorders, delusions, hallucinations, loss of appetite, lethargy and psychosis.Due to elevated levels of ammonia (hyperammonemia) cerebral edema has been observed. Hyperammonemia affects the brain stem which leads to hyperventilation. Hyperventilation causes respiratory alkalosis which ultimately leads to hypoventilation and respiratory arrest.Brain damage is largely caused by cerebral edema. It affects the potassium and water homeostasis in the brain. In acute cases, white matter disruption has been observed. Severe urea cycle disorder destroys ion gradients, neurotransmitters, transport of metabolites, mitochondrial function and alpha ketoglutarate: glutamate: glutamine ratio.

See your doctor. You could possible have one of the rare genetic diseases collectively known as urea cycle disorders, where large doses of high protein content foods can cause episodes of increased ammonia in the blood. One of the most commons ones is arginase deficiency.You can find more information here:http://www.ncbi.nlm.nih.gov/books/NBK1217/http://ghr.nlm.nih.gov/condition/arginase-deficiencyNobody can diagnose you over the Internet, so please visit your doctor. The disease I mentioned above may have nothing to do with your condition.

=> Citrulline is the only urea cycle reactant well absorbed known in LPI* Carbamoyl-phosphate : No, because it is not a reactant of urea cycle. It is increased in Lysinuric protein intolerance (LPI, see schema below).* Ornithine : No because its absorption requires the same transporter as arginine, deficient in LPI (Intestinal absorption in lysinuric protein intolerance: impaired for diamino acids, normal for citrulline.)* Other Urea cycle reactant = arginosuccinic acid : i did not find reports of any attempt, and any data about its stability for oral administration, so i can answer why it could be or not a therapy for LPI. My personnal opinion is that it is not stable enough for an oral administration.I would be most delighted to know why you are asking this question (because patients are very rare so are you one ?).