Biomarkers · Chemical
We have not added a physiological summary for this biomarker yet. Compare the commercial laboratory assays and population reference ranges below.
Check orderable catalog codes, specimen types, fasting requirements, and demographic reference ranges across laboratories.
Laboratory assay overview
Diagnose cobalamin (vitamin B12) deficiency
0.4−2.5 μmol/mmol crt
Labcorp test directory, test code 716365
Laboratory assay overview
Methylmalonic Acid (MMA) is useful to diagnose and monitor Vitamin B12 (cobalamin) deficiency, and to diagnose and monitor patients with methylmalonic acidemia.
Quest Diagnostics population reference ranges
Quest Diagnostics calculates these statistical intervals for this specific assay and demographic group, not as universal optimal targets.
| Population | Range |
|---|---|
| Methylmalonic Acid, Urine | 0.3-2.2 mmol/mol creat |
| 0-6 Months | 0.18-2.48 mmol/L |
| 7-11 Months | 0.18-2.74 mmol/L |
| 1-2 Years | 0.18-9.72 mmol/L |
| 3-8 Years | 0.18-11.49 mmol/L |
| 9-12 Years | 0.18-14.14 mmol/L |
| >12 Years | 1.77-23.31 mmol/L |
Methylmalonic Acid, Urine | 0.3-2.2 mmol/mol creat Creatinine, Random Urine 0-6 Months | 0.18-2.48 mmol/L 7-11 Months | 0.18-2.74 mmol/L 1-2 Years | 0.18-9.72 mmol/L 3-8 Years | 0.18-11.49 mmol/L 9-12 Years | 0.18-14.14 mmol/L >12 Years | 1.77-23.31 mmol/L
Quest Diagnostics test directory, test code 91032
Laboratory assay overview
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.
See Laboratory Report
Quest Diagnostics test directory, test code 35819
Laboratory assay overview
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.
See Laboratory Report
Quest Diagnostics test directory, test code 35820
We compile every detail above directly from named laboratory directories and published clinical studies. Laboratories calculate standard reference intervals from the statistical distribution of tested populations for a specific assay method and demographic group, rather than setting universal optimal targets.
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