Isovaleric Acidemia: Causes, Symptoms, Diagnosis
Isovaleric acidemia (IVA) is a rare autosomal recessive metabolic disorder caused by a deficiency of the enzyme isovaleryl-CoA dehydrogenase. This enzyme is essential for breaking…
Hyperammonemia Due to Propionic Acidemia
Hyperammonemia due to propionic acidemia (PA) is a severe metabolic condition resulting from the accumulation of ammonia in the bloodstream. Propionic acidemia is a rare…
Hyperammonemia Due to Methylmalonic Acidemia
Hyperammonemia due to methylmalonic acidemia (MMA) is a rare yet serious metabolic disorder characterized by elevated ammonia levels in the blood. This condition arises from…