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.