Organic Acids, Comprehensive, Quantitative, Urine

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The following is a list of what is included in the item above. Click the test(s) below to view what biomarkers are measured along with an explanation of what the biomarker is measuring.

2-DECENEDIOIC ACID

2-ETHYL-3OH-PROPIONIC

2-METHYLACETOACETIC ACID

2-METHYLBUTYRYLGLYCINE

2-METHYLGLUTACONIC ACID

2-OCTENEDIOIC ACID

2-OCTENOIC ACID

2-OXO-3-METHYVALERIC ACID

2-OXO-ADIPIC ACID

2-OXO-BUTYRIC ACID

2-OXO-GLUTARIC ACID

2-OXO-ISOCAPROIC ACID

2-OXO-ISOVALERIC ACID

2OH-3-METHYLVALERIC ACID

2OH-ADIPIC ACID

2OH-BUTYRIC ACID

2OH-GLUTARIC ACID

2OH-ISOCAPROIC ACID

2OH-ISOVALERIC ACID

2OH-PHENYLACETIC ACID

3-METHYLCROTONYLGLYCINE

3-METHYLGLUTACONIC ACID

3-METHYLGLUTARIC ACID

3OH-2-METHYLBUTYRIC ACID

3OH-2-METHYLVALERIC ACID

3OH-3-METHYLGLUTARIC ACID

3OH-ADIPIC ACID

3OH-BUTYRIC ACID

3OH-DODECANEDIOIC ACID

3OH-DODECANOIC ACID

3OH-GLUTARIC ACID

3OH-ISOBUTYRIC ACID

3OH-ISOVALERIC ACID

3OH-PROPIONIC ACID

3OH-SEBACIC ACID

3OH-VALERIC ACID

4OH-BUTYRIC ACID

4OH-CYCLOHEXYLACETIC ACID

4OH-PHENYLACETIC ACID

4OH-PHENYLLACTIC ACID

4OH-PHENYLPYRUVIC ACID

4OH-PHEYLPROPIONIC ACID

5-HIAA

5-OXO-PROLINE

5OH-HEXANOIC ACID

ACETOACETIC ACID

ACONITIC ACID

ADIPIC ACID

BUTYRYLGLYCINE

CITRIC ACID

Creatinine, Random Urine

CROTONYLGLYCINE

DECADIENEOIC ACID

DODECANEDIOIC ACID

ETHYLMALONIC ACID

FUMARIC ACID

GLUTACONIC ACID

GLUTARIC ACID

GLYCERIC ACID

HEXANOYLGLYCINE

HOMOGENTISIC ACID

HOMOVANILLIC ACID

INTERPRETATION

ISOBUTYRYLGLYCINE

ISOCITRIC ACID

ISOVALERYLGLYCINE

LACTIC ACID

MALIC ACID

MALONIC ACID

METHYLCITRIC ACID

METHYLMALONIC ACID

METHYLSUCCINIC ACID

MEVALONOLACTONE

N-ACETYLASPARTIC ACID

N-ACETYLTYROSINE

N-VALERYLGLYCINE

OCTANOIC ACID

OROTIC ACID

PHENYLACETIC ACID

PHENYLLACTIC ACID

PHENYLPROPIONYLGLYCINE

PHENYLPYRUVIC ACID

PROPIONYLGLYCINE

PYRUVIC ACID

SEBACIC ACID

SUBERIC ACID

SUBERYLGLYCINE

SUCCINIC ACID

SUCCINYLACETONE

THYMINE

TIGLYLGLYCINE

TRANS-CINNAMYLGLYCINE

URACIL

VMA

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The Organic Acids, Comprehensive, Quantitative, Urine test contains 1 test with 94 biomarkers.

This test is intended for the diagnosis and monitoring of inherited disorders affecting multiple metabolic pathways. 

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 (e.g., riboflavin or cobalamin) or conjugating agents (e.g., carnitine or sodium benzoate); however, there is no effective therapy for some of the disorders. 

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. See additional information for a table of selected organic acidurias and associated organic acid elevations. Since many organic acidurias are episodic, the diagnostic efficacy is maximized when the patient is expressing symptoms at the time of specimen collection. 

The test will be capable of diagnosing over 30 inherited metabolic defects, and will also allow physicians to determine dietary compliance or the effectiveness of dietary/cofactor therapy for their patients. It can also be used, alone or in conjunction with other tests, to confirm the findings of a positive expanded newborn screen.

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