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HelpTest Code SORBU Sorbitol and Mannitol, Quantitative, Random, Urine
Ordering Guidance
This is the preferred test for monitoring effectiveness of treatment in patients with phosphomannomutase 2 deficiency (PMM2-CDG). The preferred test for assessing sorbitol dehydrogenase (SORD) deficiency-related peripheral neuropathy is SORD / Sorbitol and Xylitol, Quantitative, Random, Urine
Necessary Information
Patient's age is required.
Specimen Required
Supplies: Urine Tubes, 10 mL (T068)
Container/Tube: Plastic, 10-mL urine tube
Specimen Volume: 2 mL
Collection Instructions:
1. Collect a random urine specimen.
2. No preservative.
Forms
If not ordering electronically, complete, print, and send a Biochemical Genetics Test Request (T798) with the specimen.
Useful For
Monitoring effectiveness of treatment in patients with phosphomannomutase 2 deficiency (PMM2-CDG)
Establishing a baseline level prior to initiating treatment for PMM2-CDG
This test is not useful for diagnosing congenital disorders of glycosylation (CDG) in general or PMM2-CDG in particular
Method Name
Gas Chromatography Mass Spectrometry (GC-MS)
Reporting Name
Sorbitol and Mannitol, QN, USpecimen Type
UrineSpecimen Minimum Volume
1 mL
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Urine | Refrigerated (preferred) | 28 days | |
| Frozen | 28 days |
Reject Due To
All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.Clinical Information
Phosphomannomutase 2 deficiency, or PMM2-CDG, is the most common congenital disorder of glycosylation (CDG) accounting for about 50% of known CDG patients.
In many patients with PMM2-CDG, the urine polyols, sorbitol and mannitol, are elevated relative to controls. Sorbitol, in particular, has been shown to be positively correlated with severely affected patients in contrast to patients in the mild or moderate categories. It is also higher in patients with moderate peripheral neuropathy. Both mannitol and sorbitol were increased in patients with mild liver dysfunction.(1) Treatment options for PMM2-CDG remain limited however; current literature reports that the aldose reductase inhibitor, epalrestat, can correct the underlying enzyme deficiency in a majority of patients with PMM2-CDG.(2) Recent trials suggest that treatment with epalrestat, in addition to other therapeutic benefits, resulted in nearly normalized levels of sorbitol and mannitol relative to controls.(1)
Reference Values
Mannitol: <97 mmol/mol creatinine
Sorbitol: <35 mmol/mol creatinine
Interpretation
The quantitative results of sorbitol and mannitol are reported without added interpretation.
Day(s) Performed
Tuesday, Friday
Report Available
3 to 7 daysSpecimen Retention Time
3 monthsPerforming Laboratory
Mayo Clinic Laboratories in Rochester
Test Classification
This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US Food and Drug Administration.CPT Code Information
82542
LOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| SORBU | Sorbitol and Mannitol, QN, U | 74447-4 |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| 614936 | Mannitol | 47698-6 |
| 614935 | Sorbitol | 48152-3 |
| 614937 | Interpretation | 59462-2 |
| 614938 | Reviewed By | 18771-6 |