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Results 1 - 10 of 23 for arginine deficiency
  1. ... least two mutations in the GATM gene cause arginine:glycine amidinotransferase deficiency, a disorder that involves delayed development, intellectual disability, ...
  2. ... 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_ ...
  3. ... 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 ...
  4. ... 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 ...
  5. ... the amino acid cysteine with the amino acid arginine at position 104 in the ... shortage (deficiency) of certain antibodies makes it difficult for people ...
  6. ... 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. ...
  7. ... are affected. More About This Health Condition ARG arginine-glutamic acid dipeptide (RE) repeats arginine-glutamic acid repeats-encoding gene ARP ATN1L atrophin ...
  8. ... as C11777A or Arg340Ser, replaces the amino acid arginine with the amino acid serine at ... mitochondrially encoded NADH ...
  9. ... 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 ( ...
  10. ... 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 ...
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