Treatment of medium-chain acyl-CoA dehydrogenase deficiency
View Patent ↗The present invention provides for methods and compositions for treating medium chain acyl-CoA dehydrogenase deficiency. It is based, at least in part, on the discovery that phenylbutyrate can serve as a substrate for medium chain acyl-CoA dehydrogenase. In non-limiting embodiments, phenylbutyrate and/or another source of phenylacetate is administered as a chaperone treatment to patients suffering from medium chain acyl-CoA dehydrogenase deficiency.
1. A method for treating medium chain acyl-CoA dehydrogenase deficiency in a subject suffering therefrom, comprising administering to the subject triphenylbutyrylglycerol as a regular therapy regimen at a dose of about 0.1 to about 4 g/m 2 /day.
2. The method of claim 1 , wherein the triphenylbutyrylglycerol is administered at a dose of about 0.1 to about 0.5 g/m 2 /day.
3. The method of claim 1 , wherein the triphenylbutyrylglycerol is administered at a dose of about 0.5 to about 4 g/m 2 /day.
4. The method of claim 3 , wherein the triphenylbutyrylglycerol is administered at a dose of about 1 g/m 2 /day.
5. The method of claim 3 , wherein the triphenylbutyrylglycerol is administered at a dose of about 2 g/m 2 /day.
6. A method for treating medium chain acyl-CoA dehydrogenase deficiency in a subject suffering therefrom, comprising administering to the subject triphenylbutyrylglycerol as a regular therapy regimen at a dose of about 0.1 to about 4 mL/m 2 /day.
7. The method of claim 6 , wherein the triphenylbutyrylglycerol is administered at a dose of about 0.1 to about 0.5 mL/m 2 /day.
8. The method of claim 6 , wherein the triphenylbutyrylglycerol is administered at a dose of about 0.5 to about 4 mL/m 2 /day.
9. The method of claim 8 , wherein the triphenylbutyrylglycerol is administered at a dose of about 1 mL/m 2 /day.
10. The method of claim 8 , wherein the triphenylbutyrylglycerol is administered at a dose of about 2 mL/m 2 /day.
11. A method for treating medium chain acyl-CoA dehydrogenase deficiency in a subject suffering therefrom, comprising administering to the subject triphenylbutyrylglycerol as a regular therapy regimen at a dose of about 0.1 to about 4 g/m 2 /day, when the subject is at metabolic risk.
12. The method of claim 11 , wherein the triphenylbutyrylglycerol is administered at a dose of about 0.1 to about 0.5 g/m 2 /day.
13. The method of claim 11 , wherein the triphenylbutyrylglycerol is administered at a dose of about 0.5 to about 4 g/m 2 /day.
14. The method of claim 13 , wherein the triphenylbutyrylglycerol is administered at a dose of about 1 g/m 2 /day.
15. The method of claim 13 , wherein the triphenylbutyrylglycerol is administered at a dose of about 2 g/m 2 /day.
16. The method of claim 11 , where the subject is at metabolic risk because of an infection.
17. The method of claim 11 , where the subject is at metabolic risk because of a fasting interval.
18. A method for treating medium chain acyl-CoA dehydrogenase deficiency in a subject suffering therefrom, comprising administering to the subject triphenylbutyrylglycerol as a regular therapy regimen at a dose of about 0.1 to about 4 mL/m 2 /day, when the subject is at metabolic risk.
19. The method of claim 18 , wherein the triphenylbutyrylglycerol is administered at a dose of about 0.1 to about 0.5 mL/m 2 /day.
20. The method of claim 18 , wherein the triphenylbutyrylglycerol is administered at a dose of about 0.5 to about 4 mL/m 2 /day.
21. The method of claim 20 , wherein the triphenylbutyrylglycerol is administered at a dose of about 1 mL/m 2 /day.
22. The method of claim 20 , wherein the triphenylbutyrylglycerol is administered at a dose of about 2 mL/m 2 /day.
23. The method of claim 18 , where the subject is at metabolic risk because of an infection.
24. The method of claim 18 , where the subject is at metabolic risk because of a fasting interval.
25. A method for treating medium chain acyl-CoA dehydrogenase deficiency in a subject suffering therefrom, comprising administering to the subject sodium phenylbutyrate as a regular therapy regimen at a dose of about 4 to about 8 g/m 2 /day.
26. The method of claim 25 , wherein the sodium phenylbutyrate is administered at a dose of about 4 to about 6 g/m 2 /day.
27. A method for treating medium chain acyl-CoA dehydrogenase deficiency in a subject suffering therefrom, comprising administering to the subject sodium phenylbutyrate as a regular therapy regimen at a dose of about 200 to about 400 mg/kg/day.
28. The method of claim 27 , wherein the sodium phenylbutyrate is administered at a dose of about 200 to about 300 mg/kg/day.
29. A method for treating medium chain acyl-CoA dehydrogenase deficiency in a subject suffering therefrom, comprising administering to the subject sodium phenylbutyrate as a regular therapy regimen at a dose of about 4 to about 8 g/m 2 /day, when the subject is at metabolic risk.
30. The method of claim 29 , wherein the sodium phenylbutyrate is administered at a dose of about 4 to about 6 g/m 2 /day.
31. The method of claim 29 , where the subject is at metabolic risk because of an infection.
32. The method of claim 29 , where the subject is at metabolic risk because of a fasting interval.
33. A method for treating medium chain acyl-CoA dehydrogenase deficiency in a subject suffering therefrom, comprising administering to the subject sodium phenylbutyrate as a regular therapy regimen at a dose of about 200 to about 400 mg/kg/day, when the subject is at metabolic risk.
34. The method of claim 33 , wherein the sodium phenylbutyrate is administered at a dose of about 200 to about 300 mg/kg/day.
35. The method of claim 33 , where the subject is at metabolic risk because of an infection.
36. The method of claim 33 , where the subject is at metabolic risk because of a fasting interval.