Detection of transaldolase deficiency by quantification of novel seven-carbon chain carbohydrate biomarkers in urine

Journal of Inherited Metabolic Disease

Volumn 30, Issue 5, 2007, Pages 735-742

  Wamelink, M M ^a   Smith, D E ^a   Jansen, E E ^a   Verhoeven, N M ^a   Struys, E A ^a   Jakobs, C ^a  

^a VU UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

BIOCHEMICAL MARKER; CARBOHYDRATE; CARBOHYDRATE DERIVATIVE; CARBON; MANNOHEPTULOSE; PERSEITOL; POLYOL; SEDOHEPTILOL; SEDOHEPTULOSE; SEDOHEPTULOSE 7 PHOSPHATE; TRANSALDOLASE; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; AVOCADO; BODY FLUID; CARBOHYDRATE ANALYSIS; CARBOHYDRATE SYNTHESIS; CHILD; CLINICAL ARTICLE; CONCENTRATION (PARAMETERS); CONTROLLED STUDY; DIAGNOSTIC VALUE; DIETARY INTAKE; DISORDERS OF CARBOHYDRATE METABOLISM; ENZYME DEFICIENCY; FEMALE; HUMAN; LINEAR SYSTEM; LIQUID CHROMATOGRAPHY; MALE; QUANTITATIVE ANALYSIS; REFERENCE VALUE; TANDEM MASS SPECTROMETRY; TRANSALDOLASE DEFICIENCY; URINALYSIS; URINE LEVEL; VALIDATION STUDY;

ADOLESCENT; ADULT; AGED; BIOLOGICAL MARKERS; CARBOHYDRATE METABOLISM, INBORN ERRORS; CHILD; CHILD, PRESCHOOL; CHROMATOGRAPHY, LIQUID; FEMALE; HEPTOSES; HUMANS; INFANT; INFANT, NEWBORN; MALE; MANNOHEPTULOSE; MIDDLE AGED; REFERENCE VALUES; REPRODUCIBILITY OF RESULTS; SUGAR PHOSPHATES; TANDEM MASS SPECTROMETRY; TRANSALDOLASE; URINALYSIS;

EID: 35248854916     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-007-0590-2     Document Type: Article

References (21)

1. Bernard EM, Wong B, Armstrong D (1985) Stereoisomeric configuration of arabinitol in serum, urine, and tissues in invasive candidiasis. J Infect Dis 151: 711-715.
2. Gitzelmann R (1995) Galactose-1-phosphate in the pathophysiology of galactosemia. Eur J Pediatr 154: S45-49.
3. Häfliger B, Kindhauser E, Keller F (1999) Metabolism of D-glycero-D-manno-heptitol, volemitol, in polyanthus. Discovery of a novel ketose reductase. Plant Physiol 119: 191-197.
4. Haga H, Nakajima T (1989) Determination of polyol profiles in human urine by capillary gas chromatography. Biomed Chromatogr 3: 68-71.
5. Huck JH, Struys EA, Verhoeven NM, Jakobs C, van der Knaap MS (2003) Profiling of pentose phosphate pathway intermediates in blood spots by tandem mass spectrometry: Application to transaldolase deficiency. Clin Chem 49: 1375-1380.
6. Huck JH, Verhoeven NM, Struys EA, Salomons GS, Jakobs C, van der Knaap MS (2004a) Ribose-5-phosphate isomerase deficiency: New inborn error in the pentose phosphate pathway associated with a slowly progressive leukoencephalopathy. Am J Hum Genet 74: 745-751.
7. Huck JH, Verhoeven NM, van Hagen JM, Jakobs C, van der Knaap MS (2004b) Clinical presentations of patients with polyol abnormalities. Neuropediatrics 35: 167-173.
8. Jansen G, Muskiet FA, Schierbeek H, Berger R, van der Slik W (1986) Capillary gas chromatographic profiling of urinary, plasma and erythrocyte sugars and polyols as their trimethylsilyl derivatives, preceded by a simple and rapid prepurification method. Clin Chim Acta 157: 277-293.
9. La Forge FB, Hudson CS (1917) Sedoheptose, a new sugar from Sedum spectabile. J Biol Chem 30: 61-77.
10. Liu X, Sievert J, Arpaia ML, Madore MA (2002) Postulated and physiological roles of the seven carbon sugars, mannoheptulose, and perseitol in avocado. J Am Soc Hort Sci 127: 108-114.
11. Okuda T, Mori K (1974) Distribution of mannoheptulose and sedoheptulose in plants. Phytochemistry 13: 961-964.
12. Perl A, Qian Y, Chohan KR, et al (2006) Transaldolase is essential for maintenance of the mitochondrial transmembrane potential and fertility of spermatozoa. Proc Natl Acad Sci USA 103: 14813-14818.
13. Pitkänen E, Sahlström K (1968) The occurrence of sedoheptulose in human urine. Ann Med Exp Fenn 46: 295-300.
14. Valayannopoulos V, Verhoeven N, Mention K, et al (2006) Transaldolase deficiency: A new cause of hydrops fetalis and neonatal multi-organ disease. J Pediatr 149: 713-717.
15. Vas G, Conkrite K, Amidon W, Qian Y, Banki K, Perl A (2006) Study of transaldolase deficiency in urine samples by capillary LC-MS/MS. J Mass Spectrom 41: 463-469.
16. Verhoeven NM, Jakobs C (2006a) Disorders of the pentose phosphate pathway. In: Fernandes J, Saudubray JM, van den Berghe G, Walter JH, eds. Inborn Metabolic Diseases. Berlin: Springer, 131-134.
17. Verhoeven NM, Jakobs C (2006b) Ribose-5-phosphate isomerase deficiency and transaldolase deficiency. In: Scriver C, Beaudet A, Sly W, Valle D, et al, eds. OMMBID: www.MMBIDOnline.com. New York: McGraw-Hill.
18. Verhoeven NM, Huck JH, Roos B, et al (2001) Transaldolase deficiency: liver cirrhosis associated with a new inborn error in the pentose phosphate pathway. Am J Hum Genet 68: 1086-1092.
19. Verhoeven NM, Wallot M, Huck JHJ, et al (2005) A newborn with severe liver failure, cardiomyopathy and transaldolase deficiency. J Inherit Metab Dis 28: 169-179.
20. Wamelink MM, Struys EA, Huck JH, et al (2005a) Quantification of sugar phosphate intermediates of the pentose phosphate pathway by LC-MS/MS: application to two new inherited defects of metabolism. J Chromatogr B Analyt Technol Biomed Life Sci 25: 18-25.
21. Wamelink MM, Smith DE, Jakobs C, Verhoeven NM (2005b) Analysis of polyols in urine by liquid chromatography-tandem mass spectrometry: A useful tool for recognition of inborn errors affecting polyol metabolism. J Inherit Metab Dis 28: 951-963.