organic acidemia

Organic acidemias are metabolic disorders characterized by the accumulation of organic acids in the body due to blocked metabolic pathways involving specific enzymes. These conditions are typically autosomal recessive and affect the metabolism of branched-chain amino acids like leucine, isoleucine, and valine.1

Common features of organic acidemias include:
* Acidemia (increased acid in the blood)1
* Hypoglycemia (low blood sugar)1
* Neutropenia (low white blood cell count)1
* Poor growth1
* Varying degrees of mental impairment1

These disorders can manifest in infancy or later in childhood. Examples include propionic acidemia and methylmalonic acidemia, which require dietary restriction of branched-chain amino acids and other specific therapies. Maple syrup urine disease is another related disorder, named for the characteristic smell of urine in some patients.1