Propionic acidaemia (PA) results from propionyl-CoA carboxylase deficiency. During metabolic decompensation, the accumulation of propionyl-CoA causes secondary hyperammonaemia through N-acetylglutamate synthetase inactivation. Carglumic acid, a structural analogue of N-acetylglutamate, was given to patients with PA (n. = 3) during episodes of metabolic decompensation (n. = 8; age range: birth to 4. years), in addition to high energy/low protein intake and carnitine. Plasma ammonia concentrations normalised within 6-19. h. Carglumic acid was well tolerated with no side effects noted.
- Carglumic acid
- Propionic acidaemia