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Organic acids are water-soluble compounds containing one or more carboxyl groups as well as other functional groups (-keto, -hydroxy), which are intermediate metabolites of all major groups of organic cellular components: amino acids, lipids, carbohydrates, nucleic acids, and steroids. Organic acidurias are a biochemically heterozygous group of inborn errors of metabolism biochemically characterized by the accumulation of metabolites that are either not present under normal physiological conditions, (and that accumulate as a result of the activation of alternative pathways in response to the loss of function of a specific gene product), or pathological amounts of normal metabolites. Examples of disorders identified by this test include methylmalonic acidemia, propionic acidemia, isovaleric acidemia, glutaric acidemia types I and II, Canavan disease and many others. Patients with certain fatty acid oxidation disorders and amino acid disorders also have organic acid abnormalities in urine.
Early morning urine (fasting), Add BSH3
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