Recombinant AAV vectors for treating glutaric aciduria type I

An expression cassette comprising an isolated nucleic acid molecule and a promoter component,

• wherein the isolated nucleic acid molecule comprises a nucleotide sequence selected from a group of sequences consisting of SEQ ID NOs:
• 11-18, wherein the nucleotide sequence encodes human glutaryl-CoA dehydrogenase (hGCDH) polypeptide having an amino acid sequence as shown in SEQ ID NO:
• 33,
• wherein the promoter component is operatively linked to the 5′ of the nucleotide sequence encoding the hGCDH polypeptide,
• wherein the promoter component comprises
• (a) a constitutive promoter, and
• (b) one of the followings:
• (b1) an enhancer and an intron-derived fragment, or
• (b2) an intron-derived fragment;
• wherein the intron-derived fragment originates from the intron of SV40, or consists of one or more fragments derived from one or more intronic regions of the human GCDH gene, or is a hybrid intron
• wherein the intron-derived fragment has a nucleotide sequence as shown in any of SEQ ID NO:
• 27, SEQ ID NO:
• 28, SEQ ID NO:
• 30, SEQ ID NO:
• 31 or SEQ ID NO:
• 32.