acetyl-CoA carboxylase 1 deficiency

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acetyl-CoA carboxylase 1 deficiency2016-11-24T11:44:20+00:00

acetyl-CoA carboxylase 1 deficiency

METABOLISM

An über rare inborn error (OMIM:613933) of de novo fatty acid synthesis characterised by severe brain damage, persistent myopathy and poor physical development.

Molecular pathology Defects of ACACA, which encodes the alpha chain of acetyl-CoA carboxylase, the enzyme that controls fatty acid oxidation and fatty acid uptake, cause acetyl-CoA carboxylase 1 deficiency. 

References http://www.uniprot.org/uniprot/Q13085

http://www.omim.org/entry/613933 

 

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