Organic Acids, Limited, Quantitative, Urine

The Organic Acids, Limited, Quantitative, Urine test contains 1 test with 18 biomarkers.

Organic Acids, Limited, Quantitative, Urine

Clinical Significance

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.

NOTE: The codes listed in the table are not orderable Test Codes 

Result CodeResult NameLOINC CodeComponent Name

85993994 

CREATININE, RANDOM URINE 

14683-7 

Creatinine 

86019934 

LACTIC ACID 

25112-4 

Lactate/Creatinine 

86019942 

2OH-ISOVALERIC ACID 

29504-8 

2-Hydroxyisovalerate/Creatinine 

86019946 

3OH-2-METHYLBUTYRIC ACID 

Pending assignment 

86019962 

4OH-PHENYLPYRUVIC ACID 

29519-6 

4-Hydroxyphenylpyruvate/Creatinine 

86019964 

SUCCINYLACETONE 

25137-1 

Succinylacetone/Creatinine 

86019967 

METHYLMALONIC ACID 

25116-5 

Methylmalonate/Creatinine 

86019968 

MALONIC ACID 

47696-0 

Malonate/Creatinine 

86019974 

PROPIONYLGLYCINE 

24442-6 

Propionylglycine/Creatinine 

86019976 

2-METHYLBUTYRYLGLYCINE 

24435-0 

2-Methylbutyrylglycine/Creatinine 

86019978 

ISOVALERYLGLYCINE 

24440-0 

Isovalerylglycine/Creatinine 

86019982 

3-METHYLCROTONYLGLYCINE 

24436-8 

3-Methylcrotonylglycine/Creatinine 

86019985 

ETHYLMALONIC ACID 

25099-3 

Ethylmalonate/Creatinine 

86019997 

SUBERYLGLYCINE 

24443-4 

Suberylglycine/Creatinine 

86020008 

3OH-3-METHYLGLUTARIC ACID 

26583-5 

3-Hydroxy,3-Methylglutarate/Creatinine 

86020013 

3OH-GLUTARIC ACID 

29510-5 

3-Hydroxyglutarate/Creatinine 

86020019 

OROTIC ACID 

17869-9 

Orotate/Creatinine 

86020235 

INTERPRETATION 

33477-1 

Organic acids pattern