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Argininemia is an autosomal recessive urea cycle disorder where a deficiency of the enzyme arginase causes a buildup of arginine and ammonia in the blood.Ammonia, which is formed when proteins are broken down in the body, is toxic if levels become too high; the nervous system is especially sensitive to the effects of excess ammonia.
Arginine is the amino acid with the formula (H 2 N)(HN)CN(H)(CH 2) 3 CH(NH 2)CO 2 H. The molecule features a guanidino group appended to a standard amino acid framework. At physiological pH, the carboxylic acid is deprotonated (−CO 2 −) and both the amino and guanidino groups are protonated, resulting in a cation.
Hyperhomocysteinemia is a medical condition characterized by an abnormally high level of total homocysteine (that is, including homocystine and homocysteine-cysteine disulfide) in the blood, conventionally described as above 15 μmol/L. [1]
Argininosuccinic aciduria is an inherited disorder that causes the accumulation of argininosuccinic acid (also known as "ASA") in the blood and urine. Some patients may also have an elevation of ammonia, a toxic chemical, which can affect the nervous system.
It contains L-arginine hydrochloride and L-lysine hydrochloride. [2] The most common side effects include nausea and vomiting. [2] Arginine/lysine is also associated with hyperkalaemia (high blood potassium levels), but the frequency of this side effect is not known. [2] Side effects with arginine/lysine are usually mild or moderate. [2]
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Methylated arginine is a modified version of arginine that is commonly formed from protein arginine (arginine incorporated in protein). Asymmetrically methylated forms of arginine are toxic when released during protein turnover. The protein detoxification pathway eliminates free methylated-arginine derivatives from the cell.
Cardiovascular effects have been linked to ADMA. Asymmetric dimethylarginine is created in protein methylation, a common mechanism of post-translational protein modification. This reaction is catalyzed by an enzyme set called protein arginine N-methyltransferases 1 and 2 (also known as S-adenosylmethionine protein N-methyltransferases I and II ...