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However, researchers note these are in vitro measurements that do not directly translate to in vivo outcomes
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The 545 amino acid isoform a protein is inactive but post-translational processing results in a 515 amino acid functional protein containing an acetylated alanine residue at the N-terminus
The signs and symptoms of the deficiency may include anemia, the buildup of too much acid in the body (metabolic acidosis), frequent infections, and symptoms caused by problems in the brain including seizures, intellectual disability, and loss of coordination (ataxia)
