Composition and method for treating succinate semialdehyde dehydrogenase deficiency (ssadhd)

摘要

Compositions and methods for treating succinate semialdehyde dehydrogenase deficiency (SSAD HD) are provided herein.The composition can include a gene encoding a functional succinate semialdehyde dehydrogenase (SSADH) enzyme, such as Aldh5a1, operably coupled to the targeting vector.Functional SSADH enzymes circulate γ‐ Hydroxybutyric acid (GHB) γ‐ It is assumed that the level of aminobutyric acid (GABA) is lowered.In some embodiments, a composition comprising a gene that encodes a functional SSADH enzyme operably coupled to a target vector; One or more mTOR inhibitors; Combination therapy, including administering to the therapeutic effective dose of combinations of GABA-T inhibitors, is expected.Suitable mTOR inhibitors include rapamycin, while the appropriate GABA-T inhibitor contains bigavatrin.