Elevated Quinolate on Organic Acid Testing

Clinical Significance and Interpretation

• The American College of Medical Genetics and Genomics emphasizes that interpretation of organic acid results must be based on the overall pattern of metabolites present, not individual abnormalities alone 1, 2, 3
• Quinolate is notably absent from the ACMG's comprehensive table of recently described inborn errors of metabolism with abnormal organic acid profiles, indicating it is not a primary marker for classic organic acidurias 1, 2, 4

Diagnostic Approach

• The American College of Medical Genetics and Genomics guideline recommends that organic acid interpretation should be performed by a board-certified laboratory director 1, 2, 4
• Evaluation of the complete organic acid pattern is necessary to distinguish primary metabolic disorders from secondary inflammatory processes, and should include checking for classic organic acidemia markers (methylmalonic acid, glutaric acid, 3-hydroxyglutaric acid, etc.) 1, 5

Clinical Pitfalls

• The American College of Medical Genetics and Genomics guidelines indicate that elevated quinolate should not be interpreted as evidence of a primary organic acidemia without supporting metabolic markers 1, 2, 4