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HelpTest ID: TALDO Polyols, Quantitative, Urine
Useful For
Diagnosing transaldolase deficiency or ribose-5-phosphate isomerase deficiency
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 |
Clinical Information
Polyols are sugar alcohols that have been identified in blood, urine, and cerebrospinal fluid. Characteristic patterns of abnormal polyols may suggest a disorder of the pentose phosphate pathway (PPP), including transaldolase (TALDO) deficiency and ribose-5-phosphate isomerase (RPI) deficiency. The PPP is involved in carbohydrate metabolism and is present in the cytosol of all cells. Two specific functions of the PPP are the production of nicotinamide adenine dinucleotide phosphate and the synthesis of ribose-5-phosphate, a molecule necessary for nucleotide and nucleic acid synthesis. Both TALDO and RPI deficiency, which have multisystem involvement are recently described disorders of this pathway.
TALDO deficiency is an autosomal recessive disorder caused by a reduction of the enzyme transaldolase. Clinical manifestations are characterized by severe neonatal liver failure, coagulopathy, low serum protein, hypoglycemia, high ammonia, progressive myocardial hypertrophy, and abnormal lactate dehydrogenase with remarkably normal or low transaminases.
Patients may present in the antenatal period with maternal HELLP syndrome (hemolysis, elevated liver enzymes, low platelets), hydrops fetalis and oligohydramnios, dysmorphic features, cutis laxa, and hypertrichosis. The clinical course is variable, but acute liver failure with normal transaminases is a common finding. Initially, hepatomegaly is absent, but the spleen may be enlarged. Later, hepatomegaly with liver cirrhosis and mild kidney failure occurs.
RPI deficiency is an autosomal recessive disorder caused by a deficiency of the enzyme ribose-5-phosphate isomerase. Clinical manifestations include neurological deficits such as slow progressing leukoencephalopathy and neuropathy. Additionally, spasticity, ataxia, epilepsy, regression, and delayed psychomotor development have been described.
Polyols analysis in urine is the method of choice for the biochemical diagnosis of TALDO and RPI deficiency. Abnormal results should be followed with either enzymatic or molecular genetic analysis.
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 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 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 May 25, 2023. Available at https://ommbid.mhmedical.com/content.aspx?sectionid=225081431&bookid=2709
2. 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;36:997-1004
3. 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;74:745-751
4. Wamelink MM, Struys EA, Jakobs C. The biochemistry, metabolism and inherited defects of the pentose phosphate pathway: a review. J Inherit Metab Dis. 2008;31:703-717
Day(s) Performed
Tuesday
Report Available
3 to 9 daysTest Classification
This test was developed, and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test 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.
Special Instructions
mml-biochemical