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arginine deficiency
- ... least two mutations in the GATM gene cause arginine:glycine amidinotransferase deficiency, a disorder that involves delayed development, intellectual disability, ...
- ... in the body. High levels of ammonia and arginine are believed to cause the neurological problems and other signs and symptoms of arginase deficiency. More About This Health Condition A-I ARGI1_ ...
- ... ACADS gene, these polymorphisms do not cause SCAD deficiency but may increase a person's risk of developing this disorder. One of these polymorphisms replaces the amino acid arginine with the amino acid tryptophan at protein position ...
- ... the amino acid cysteine with the amino acid arginine at position 203 ... of red-green color vision deficiency that results from a total loss of M ...
- ... the amino acid cysteine with the amino acid arginine at position 104 in the ... shortage (deficiency) of certain antibodies makes it difficult for people ...
- ... gene has been found to cause GM3 synthase deficiency, a condition characterized by recurrent seizures (epilepsy) and problems with brain development. The known mutation replaces a single protein building block (amino acid), arginine, with a signal to stop protein production prematurely. ...
- ... are affected. More About This Health Condition ARG arginine-glutamic acid dipeptide (RE) repeats arginine-glutamic acid repeats-encoding gene ARP ATN1L atrophin ...
- ... as C11777A or Arg340Ser, replaces the amino acid arginine with the amino acid serine at ... mitochondrially encoded NADH ...
- ... CoA lyase deficiency (also called HMG-CoA lyase deficiency). Most of these mutations change single amino acids in the HMG-CoA lyase enzyme. For example, the most common mutation in the Saudi Arabian population replaces the amino acid arginine with the amino acid glutamine at position 41 ( ...
- ... start the reaction in which the amino acid arginine, a building block of proteins, is produced from ... nitrogen collected earlier in the urea cycle. The arginine is later broken down into urea, which is ...