What does the Amino Acid Metabolite Markers — Organic Acid Derivatives of Key Amino Acids test measure?

Why is Amino Acid Metabolite Markers — Organic Acid Derivatives of Key Amino Acids measured?

In the adult OAT, severely elevated amino acid metabolites that would indicate the classical inborn errors of metabolism (PKU, tyrosinaemia, glutaric aciduria) are typically already identified through neonatal screening. However, partial enzyme deficiencies, late-presenting attenuated variants, and acquired cofactor-related metabolic disturbances may produce mild-to-moderate elevations detectable on the OAT. In functional medicine, elevated phenylalanine or tyrosine-derived metabolites guide neurotransmitter precursor and cofactor support. Elevated methylsuccinic acid and ethylmalonic acid in the organic acid profile suggest branched-chain amino acid catabolism impairment and short-chain fatty acid oxidation dysfunction relevant to riboflavin and CoQ10 supplementation protocols.

Reference ranges

Standard reference

# REVIEWER FLAG: Confirm Mosaic Diagnostics reference ranges for amino acid-derived organic acid markers — including phenylpyruvic acid, phenyllactic acid (phenylalanine metabolism — elevated in PKU), homogentisic acid (tyrosine catabolism — elevated in alkaptonuria), succinylacetone (tyrosine catabolism — elevated in hereditary tyrosinaemia type 1), 4-hydroxyphenylacetic acid, methylsuccinic acid, and glutaric acid (glutaric aciduria types 1 and 2). Reference intervals are specific to Mosaic's population dataset.

Functional medicine optimal

# REVIEWER FLAG: Confirm Mosaic Diagnostics interpretive zones for amino acid metabolite markers.

Units

mmol/mol creatinine

Reference ranges vary by laboratory and assay platform. Interpret in context of the issuing laboratory's stated range.