Retrospective detection of transaldolase deficiency in amniotic fluid: Implications for prenatal diagnosis

Prenatal Diagnosis

Volumn 28, Issue 5, 2008, Pages 460-462

  Wamelink, Mirjam M C ^a   Struys, Eduard A ^a   Valayannopoulos, Vassili ^b   Gonzales, Marie ^c,d   Saudubray, Jean Marie ^b   Jakobs, Cornelis ^a  

^a VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^b HÔPITAL NECKER ENFANTS MALADES   (France)

^c ARMAND TROUSSEAU HOSPITAL   (France)

^d SORBONNE UNIVERSITÉ   (France)

Author keywords

Hydrops fetalis; Liver dysfunction; Oligoamnios; Splenomegaly; Transaldolase deficiency

Indexed keywords

MANNOHEPTULOSE; POLYOL; SUGAR; TRANSALDOLASE;

AMNION FLUID; ARTICLE; CLINICAL FEATURE; DIAGNOSTIC PROCEDURE; ENZYME ACTIVITY; ENZYME DEFICIENCY; FIBROBLAST; GENE MUTATION; HUMAN; INBORN ERROR OF METABOLISM; LABORATORY TEST; LIQUID CHROMATOGRAPHY; MALE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; RETROSPECTIVE STUDY; TANDEM MASS SPECTROMETRY; TRANSALDOLASE DEFICIENCY;

AMNIOTIC FLUID; FEMALE; HEPTOSES; HUMANS; METABOLISM, INBORN ERRORS; PREGNANCY; PRENATAL DIAGNOSIS; RIBITOL; TRANSALDOLASE;

EID: 45249102681     PISSN: 01973851     EISSN: 10970223     Source Type: Journal    
DOI: 10.1002/pd.2002     Document Type: Article

References (8)

1. 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.
2. Jauniaux E, Hempstock J, Teng C, Battaglia FC, Burton GJ. 2005. Polyol concentrations in the fluid compartments of the human conceptus during the first trimester of pregnancy: maintenance of redox potential in a low oxygen environment. J Clin Endocrinol Metab 90: 1171-1175.
3. 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.
4. 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.
5. 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.
6. Wamelink MM, Smith DE, Jakobs C, Verhoeven NM. 2005a. 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.
7. Wamelink MM, Struys EA, Huck JH, et al. 2005b. 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.
8. Wamelink MM, Smith DEC, Jansen EEW, Verhoeven NM, Struys EA, Jakobs C. 2007. Detection of transaldolase deficiency by quantitation of novel seven-carbon chain carbohydrate biomarkers in urine. J Inherit Metab Dis 30: 735-742.