Testing of organic acids is used by clinicians to diagnose inborn errors of metabolism.
Organic acids are water-soluble compounds containing one or more carboxyl groups as well as other functional groups (-keto, -hydroxy). They occur as physiologic intermediates in a variety of metabolic pathways. The organic acidurias are a group of disorders in which one or more of these pathways are blocked, resulting in a deficiency of normal products and an abnormal accumulation of intermediate metabolites (organic acids) in the body. These excess metabolites are excreted in the urine.
Other inborn errors of metabolism (i.e amino acid disorders, urea cycle disorders, congenital lactic acidemias) require organic acids testing for diagnosis and monitoring.A situation of severe and persistent metabolic acidosis of unexplained origin, elevated anion gap, and severe neurologic manifestations should be considered strong diagnostic indicators of one of these diseases. The presence of ketonuria, occasionally massive, provides an important clue toward the recognition of disorders, especially in the neonatal period. Hyperammonemia, hypoglycemia, and lactic acidemia are frequent findings, especially during acute episodes of metabolic decompensation.
Random urine sample collected in a plain 25ml container
Royal Victoria Infirmary