Methylmalonic acid (urine)
Test performed as part of urine organic acid analysis. Methylmalonic acid (MMA) is a metabolite which can be elevated in a number of inherited metabolic disorders (e.g. methyl malonic aciduria, defects of cobalamin metabolism, SUCLA 2 deficiency).
| Tube | Plain Universal |
|---|---|
| ID | 29969 |
| Availability | Weekdays |
| Additional Information | Semi quantitation is available for patients with known inherited metabolic disorders. |
| Turn Around | 18 days |
| Send to | Specialist Laboratory Medicine Block 46 St James hospital Beckett Street Leeds LS9 7TF |
| Advice | http://www.bimdg.org.uk/guidelines/guidelines-start.asp |
| Collection Con | Minimum volume: 1.5 – 5.0mL (dependent on creatinine) Instructions for lab: Send to Block 46. If storage required (overnight or over the weekend) store refrigerated at 2-8ºC. Please discuss with Biochemical Genetics lab prior to rejecting any samples. |
| Frequency | Daily |
| Sample REQ | Plain urine. Boric acid samples must NOT be used. Please request urine organic acids and state MMA in clinical details. |
| Ref. Range Notes | Descriptive report of results is provided. Contact Biochemical Genetics laboratory for further advice if required. |
| Units | µmol/mmol creatinine |
| Telepath | Urine organic acids: ORGU1J, Creatinine: CREU1J |
| ICE Codes | Urine organic acids: JORGU |
