Amino acid and organic acid metabolism
Meaningful answers to guide care
Dysregulation of the metabolism of certain amino acids and organic acids results in a harmful buildup of substances that can lead to potentially life-threatening conditions.
Our molecular and functional biochemical assays for amino acid and organic acid disorders can assist in diagnosing the most prevalent and treatable disorders as well as rarer conditions. Additionally, biochemical genetic assays are useful for treatment monitoring of relevant inborn errors of metabolism and other causes of nutritional imbalances such as some gastrointestinal or renal diseases.
Molecular genetic testing is available through our custom gene ordering tool for all of the amino acid disorders presented here, and many others not included in our pre-existing panels.
Test menu
Amino acid disorders
Offering both molecular and functional biochemical assays, our testing for amino acid metabolism can assist in diagnosing the most prevalent and treatable disorders, including phenylketonuria, tyrosinemia, and maple syrup urine disease, as well as more rare diseases.
Organic acid disorders
Our full menu of testing for organic acid metabolism consists of evaluations for methylmalonic acidemias (cobalamin disorders), propionic acidemia, and glutaric acidemia. We are among the only laboratories in the world to offer chiral analysis for 2-hydroxyglutaric aciduria testing. Because metabolic control and regular monitoring are essential to long-term management of these disorders, laboratory testing is an important tool to enable successful outcomes.
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