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Organic Acids, Quantitative, Full Panel

Organic Acids, Full Panel, Quantitative, Urine

Test Summary

Organic Acids, Full Panel, Quantitative, Urine


Clinical Use

  • Diagnose organic acidurias

Clinical Background

Organic acidurias are inherited disorders resulting from a deficient enzyme or transport protein. Although most are autosomal recessive disorders, several are X-linked. The more than 60 described organic acidurias affect many metabolic pathways including amino acid metabolism, lipid metabolism, purine and pyrimidine metabolism, the urea cycle, the Krebs cycle, and fatty acid oxidation. These disorders are characterized by a wide variety of symptoms such as lethargy, coma, hypotonia, seizures, ataxia, vomiting, failure to thrive, developmental delay, liver disease, neutropenia, thrombocytopenia, osteomalacia, and osteoporosis. Severity of presentation is highly variable as is age of onset, and patients may not present with the most characteristic features. Laboratory results commonly indicate metabolic acidosis, increased anion gap, hyperammonemia, hypoglycemia, lactic acidemia, ketosis, or abnormal lipid patterns. Treatment may be based on dietary restrictions and/or supplementation with cofactors (eg, riboflavin or cobalamin) or conjugating agents (eg, carnitine or sodium benzoate); however, there is no effective therapy for some of the disorders.

Individuals Suitable for Testing

  • Infants

  • Children

  • Adults


  • Gas chromatography/mass spectrometry

  • Quantitates 78 organic acids

  • Reported results: mmol/mol creatinine and a patient specific interpretation

  • Turn-around-time: 4-6 days

Interpretive Information

Elevation of one or more organic acids is diagnostic for an organic aciduria; however, elevations should be interpreted in context with clinical findings and/or additional test results.

Since many organic acidurias are episodic, the diagnostic efficacy is maximized when the patient is expressing symptoms at the time of specimen collection.

The Table lists selected organic acidurias along with the organic acids that may be elevated in each disorder. Only those organic acids included in this test are listed.

Table. Selected Organic Acidurias and Associated Organic Acid Elevations

Organic Aciduria

Elevated Organic Acid

Methylmalonic acidemia

Methylmalonic acid, methylcitric acid,
3-hydroxypropionic acid, propionylglycine,
3-hydroxyvaleric acid

Fatty oxidation defects (medium chain
acyl-CoA dehydrogenase deficiency [MCAD])

Adipic acid, suberic acid, sebacic acid, octanoic acid, suberylglycine, hexanoylglycine, octenedioic acid, phenylpropionylglycine, 5-hydroxyhexanoic acid

Propionic acidemia

Propionylglycine, methylcitric acid,
3-hydroxypropionic acid, 3-hydroxyvaleric acid

Glutaric aciduria, type 1

Glutaric acid, glutaconic acid, 3-hydroxyglutaric acid

Multiple acyl-CoA dehydrogenase deficiency (glutaric aciduria, type II)

Glutaric acid, adipic acid, suberic acid,
2-hydroxyglutaric acid, ethylmalonic acid, isovalerylglycine

Isovaleric acidemia

Isovalerylglycine, 3-hydroxyisovaleric acid

Multiple carboxylase deficiency

3-Methylcrotonylglycine, methylcitric acid, lactic
acid, 3-hydroxyisovaleric acid, tiglylglycine,
3-hydroxypropionic acid

Urea cycle defects

Orotic acid

Maple syrup urine disease (MSUD)

2-Oxoisocaproic acid, 2-hydroxyisocaproic acid,
2-hydroxyisovaleric acid, 2-oxoisovaleric acid,
2-hydroxy-3-methylvaleric acid,
2-oxo-3-methylvaleric acid

Lactic acidosis

Lactic acid, pyruvic acid, 2-hydroxybutyric acid,
4-hydroxyphenyllactic acid


4-Hydroxyphenyllactic acid, 4-hydroxyphenylacetic acid, 4-hydroxyphenylpyruvic acid, N-acetyltyrosine, succinylacetone (type I only)

Canavan disease

N-acetylaspartic acid


Acetoacetic acid, 3-hydroxybutyric acid, adipic acid, suberic acid, 3-hydroxyisobutyric acid,
3-hydroxyisovaleric acid, 3-hydroxy-2-methylbutyric acid

Phenylketonuria (PKU)

Phenyllactic acid, phenylpyruvic acid,
2-hydroxyphenylacetic acid

2-Oxoadipic aciduria

2-Oxoadipic acid, 2-hydroxyadipic acid

3-Hydroxy-3-methylglutaric aciduria

3-Hydroxy-3-methylglutaric acid, 3-hydroxyisovaleric acid, 3-methylcrotonylglycine, 3-methylglutaconic
acid, 3-methylglutaric acid

3-Methylcrotonyl-CoA carboxylase deficiency

3-Hydroxyisovaleric acid, 3-methylcrotonylglycine

3-Methylglutaconic aciduria

3-Methylglutaconic acid, 3-hydroxyisovaleric acid,
3-methylglutaric acid

3-Oxothiolase deficiency

3-Hydroxy-2-methylbutyric acid, tiglylglycine,

2-methylacetoacetic acid, acetoacetic acid,

3-hydroxybutyric acid



Dihydrolipoyl dehydrogenase deficiency (lipoamide dehydrogenase, E3)

Lactic acid, 2-hydroxyisocaproic acid,
2-hydroxyisovaleric acid, 2-hydroxy-3-methylvaleric acid, 2-oxoglutaric acid, 2-oxoisocaproic acid,
2-oxoisovaleric acid, 2-oxo-3-methylvaleric acid


  1. Part 9, Organic Acids. In Scriver CR, Beaudet AL, Sly WS, et al, eds. The Metabolic and Molecular Basis of Inherited Disease. 8th ed. New York, NY: McGraw-Hill, Inc; 2001:2109-2260.

Content reviewed 06/2013

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