- ... hyperammonemia in CA-VA deficiency; The presence of acetyl-CoA carboxylase deficiency in HCS deficiency and biotinidase deficiency. Individuals ... a result of the activity of the cytosolic acetyl-CoA carboxylase 2 isoform that is not affected by impaired ...
- ... summary ><gene-symbol >ACTA1</gene-symbol><name >actin alpha 1, skeletal muscle</name><ghr-page >https://medlineplus. ... provides instructions for making a protein called skeletal alpha (α)-actin, which is part of the actin ...
- ... topic ><url >https://medlineplus.gov/genetics/condition/17-alpha-hydroxylase-17-20-lyase-deficiency</url><title >17 alpha-hydroxylase/17,20-lyase deficiency</title><other_names >< ...
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