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GENE THERAPY FOR COMBINED METHYLMALONIC ACIDEMIA/ACIDURIA AND HYPERHOMOCYSTEINEMIA/HOMOCYSTINURIA, COBALAMIN C TYPE, AND DEFICIENCY OF MMACHC
GENE THERAPY FOR COMBINED METHYLMALONIC ACIDEMIA/ACIDURIA AND HYPERHOMOCYSTEINEMIA/HOMOCYSTINURIA, COBALAMIN C TYPE, AND DEFICIENCY OF MMACHC
The present invention provides a synthetic MMACHC polynucleotide comprising a polynucleotide encoding MMACHC that is codon-optimized for expression in a human. Also provided is a polypeptide encoded by a synthetic MMACHC polynucleotide, an expression vector comprising a MMACHC gene sequence under the control of a chicken beta actin (CBA) promoter, and an expression vector comprising a synthetic MMACHC polynucleotide. Methods of treating cobalamin C deficiency and for detecting or tracking exogenous MMACHC are also provided.
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