Propionic Acidemia
Propionic acidemia (PA) is a rare but serious inherited metabolic disorder belonging to the group of organic acidemias. It results from a deficiency in the…
Methylmalonic Acidemia
Methylmalonic acidemia (MMA) is a rare inherited metabolic disorder that affects the body’s ability to break down certain proteins and fats. It results from a…
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 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…