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HelpTest Code TALDO Polyols, Quantitative, Urine
Useful For
Diagnosing deficiencies of transaldolase, transketolase, sedoheptulose, or ribose-5-phosphate isomerase
Reporting Name
Polyols, QN, USpecimen Type
UrineNecessary Information
1. Patient's age is required.
2. Biochemical Genetics Patient Information (T602) is recommended, but not required, to be filled out and sent with the specimen to aid in the interpretation of test results.
Specimen Required
Supplies: Urine Tubes, 10 mL (T068)
Specimen Volume: 2 mL
Collection Instructions:
1. Collect a random urine specimen.
2. No preservative.
Specimen Minimum Volume
1 mL
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Urine | Refrigerated (preferred) | 28 days | |
| Frozen | 28 days |
Reference Values
ERYTHRITOL
≤11 months: <220 mmol/mol creatinine
1-3 years: <267 mmol/mol creatinine
4-17 years: <171 mmol/mol creatinine
>or =18 years: <99 mmol/mol creatinine
ARABINITOL
≤11 months: <140 mmol/mol creatinine
1-3 years: <149 mmol/mol creatinine
4-17 years: <97 mmol/mol creatinine
>or =18 years: <51 mmol/mol creatinine
RIBITOL
≤11 months: <31 mmol/mol creatinine
1-3 years: <31 mmol/mol creatinine
4-17 years: <17 mmol/mol creatinine
>or =18 years: <11 mmol/mol creatinine
SEDOHEPTULOSE
≤11 months: <76 mmol/mol creatinine
1-3 years: <27 mmol/mol creatinine
4-17 years: <28 mmol/mol creatinine
>or =18 years: <22 mmol/mol creatinine
Interpretation
An interpretive report will be provided.
All profiles are reviewed by the laboratory director and interpretation is based on pattern recognition. A detailed interpretation is given, including an overview of the results and of their significance, a correlation to available clinical information, elements of differential diagnosis, recommendations for additional biochemical testing and in vitro confirmatory studies (enzyme assay, molecular analysis), name and phone number of key contacts who may provide these studies at Mayo Clinic or elsewhere, and a phone number to reach one of the laboratory directors in case the referring physician has additional questions.
Clinical Reference
1. Wamelink MM, Ramos RJ, van den Elzen AP, et al. First two unrelated cases of isolated sedoheptulokinase deficiency: A benign disorder?. J Inherit Metab Dis. 2015;38(5):889-894. doi:10.1007/s10545-014-9809-
2. OMIM: 617044. Short Stature, Developmental Delay, and Congenital Heart Defects; SDDHD. Johns Hopkins University; 2016. Last updated April 07, 2021, Accessed September 27, 2024. Available at www.omim.org/entry/617044
3. OMIM: 617213. Sedoheptulokinase Deficiency; SHPKD. Johns Hopkins University; 2016. Accessed September 27, 2024. Available at www.omim.org/entry/617213
4. Eyaid W, Al Harbi T, Anazi S, et al. Transaldolase deficiency: report of 12 new cases and further delineation of the phenotype. J Inherit Metab Dis. 2013;36(6):997-1004
5. Huck JH, Verhoeven NM, Struys EA, et al. Ribose-5-phosphate isomerase deficiency: new inborn error in the pentose phosphate pathway associated with a slowly progressive leukoencephalopathy. Am J Hum Genet. 2004;74(4):745-751
6. Stincone A, Prigione A, Cramer T, et al. The return of metabolism: biochemistry and physiology of the pentose phosphate pathway. Biol Rev Camb Philos Soc. 2015;90(3):927-963. doi:10.1111/brv.12140
7. Wamelink MC, Valayannopoulos V, Jakobs C. Ribose-5-phosphate isomerase deficiency and transaldolase deficiency. In: Valle DL, Antonarakis S, Ballabio A, Beaudet AL, Mitchell GA. eds. The Online Metabolic and Molecular Bases of Inherited Disease. McGraw Hill; 2019. Accessed September 27, 2024. Available at https://ommbid.mhmedical.com/content.aspx?sectionid=225081431&bookid=2709
Day(s) Performed
Tuesday; Friday
Report Available
3 to 7 daysPerforming 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 |
|---|---|---|
| TALDO | Polyols, QN, U | 74447-4 |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| 35824 | Erythritol | 48107-7 |
| 35825 | Arabinitol | 47829-7 |
| 35826 | Ribitol | 47884-2 |
| 35827 | Sedoheptulose | 78967-7 |
| 35829 | Interpretation (TALDO) | 74448-2 |
| 35830 | Reviewed By | 18771-6 |
Method Name
Gas Chromatography Mass Spectrometry (GC-MS)
Forms
1. Biochemical Genetics Patient Information (T602)
2. If not ordering electronically, complete, print, and send a Biochemical Genetics Test Request (T798) with the specimen.