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…
Biotinidase deficiency
Biotinidase deficiency (BTD) is a rare genetic disorder that affects the body’s ability to recycle biotin, a crucial water-soluble vitamin also known as vitamin B7.…