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Detection of transaldolase deficiency by quantification of novel seven‐carbon chain carbohydrate biomarkers in urine
- Source :
- Journal of Inherited Metabolic Disease. 30:735-742
- Publication Year :
- 2007
- Publisher :
- Wiley, 2007.
-
Abstract
- Transaldolase deficiency, a recently discovered disorder of carbohydrate metabolism with multisystem involvement, has been diagnosed in 6 patients. Affected patients have abnormal concentrations of polyols in body fluids and in all patients we have previously found increased amounts of a seven-carbon chain carbohydrate which we suspected of being sedoheptulose. We report development of a liquid chromatography-tandem mass spectrometry method for quantitation of the seven-carbon carbohydrates sedoheptulose and mannoheptulose in urine. Additionally, other seven-carbon chain carbohydrates were characterized in urine, including sedoheptitol, perseitol and sedoheptulose 7-phosphate. Transaldolase-deficient patients had significantly increased urinary sedoheptulose and sedoheptulose 7-phosphate, associated with subtle elevations of mannoheptulose, sedoheptitol and perseitol. Our findings reveal novel urinary biomarkers for identification of transaldolase deficiency.
- Subjects :
- Adult
Male
medicine.medical_specialty
Adolescent
Mannoheptulose
Urine
Urinalysis
Carbohydrate metabolism
Transaldolase deficiency
chemistry.chemical_compound
Reference Values
Tandem Mass Spectrometry
Internal medicine
Genetics
medicine
Humans
Child
Increased urinary sedoheptulose
Genetics (clinical)
Aged
Infant, Newborn
Infant
Reproducibility of Results
Middle Aged
Carbohydrate
Heptoses
medicine.disease
Transaldolase
Sedoheptulose
Endocrinology
chemistry
Biochemistry
Child, Preschool
Female
Sugar Phosphates
Biomarkers
Carbohydrate Metabolism, Inborn Errors
Chromatography, Liquid
Subjects
Details
- ISSN :
- 15732665 and 01418955
- Volume :
- 30
- Database :
- OpenAIRE
- Journal :
- Journal of Inherited Metabolic Disease
- Accession number :
- edsair.doi.dedup.....152f65c7b2836d1b38f179558368e3e5