Pterins analysis in amniotic fluid for the prenatal diagnosis of GTP cyclohydrolase deficiency
- 37 Downloads
- 9 Citations
Summary
Hyperphenylalaninaemia due to tetrahydrobiopterin deficiency is a group of rare and severe diseases. Prenatal diagnosis of dihydropteridine reductase and pyruvoyltetrahydropterin synthetase deficiencies can be achieved by enzyme assay in cultured fluid cells and/or fetal blood. In contrast, prenatal diagnosis of GTP cyclohydrolase deficiency can only rely on the measurement of pterin metabolites in the amniotic fluid.
A pregnancy at risk for GTP cyclohydrolase deficiency was investigated. HPLC analysis of amniotic fluid pterins revealed neopterin and biopterin concentrations below the lowest limit of normal age-matched gestations. The mother refused abortion. The early follow-up of the child confirmed the diagnosis of GTP cyclohydrolase deficiency (hyperphenylalaninaemia, abnormal profile of urinary pterins and neurological deterioration).
Keywords
Amniotic Fluid Prenatal Diagnosis Neurological Deterioration Neopterin PterinPreview
Unable to display preview. Download preview PDF.
References
- Blau, N. Inborn errors of pterin metabolism.Ann. Rev. Nutr. 8 (1988) 185–209Google Scholar
- Blau, N., Niederwieser, A., Curtius, H. C., Kierat, L., Leimbacher, W., Matasovic, A., Binkert, F., Lehmann, H., Leupold, D., Guardamagna, O., Ponzone, A., Schmidt, H., Coskun, T., Ozalp, I., Giugliani, R., Biasucci, G. and Giovannini, M. Prenatal diagnosis of atypical phenylketonuria.J. Inher. Metab. Dis. 12 (1989) 295–298Google Scholar
- Dhondt, J. L. Tetrahydrobiopterin deficiencies: preliminary analysis from an international survey.J. Pediatr. 104 (1984) 501–508Google Scholar
- Dhondt, J. L., Farriaux, J. P., Boudha, A., Largillière, C., Ringel, J., Roger, M. M. and Leeming, R. Neonatal hyperphenylalaninemia presumably caused by guanosine triphosphate-cyclohydrolase deficiency.J. Pediatr. 106 (1985) 954–956Google Scholar
- Dhondt, J. L., Hayte, J. M., Forzy, G., Delcroix, M. and Farriaux, J. P. Unconjugated pteridines in amniotic fluid during gestation.Clin. Chim. Acta 161 (1986) 269–273Google Scholar
- Firgaira, F. A., Cotton, R. G. H., Danks, D., Fowler, K., Lipson, A. and Yu, J. S. Prenatal determination of dihydropteridine reductase in a normal fetus at risk for malignant hyperphenylalaninemia.Prenatal Diagn. 3 (1983) 7–11Google Scholar
- Naylor, E. W., Ennis, D., Davidson, A. G. F., Wong, L. T. K., Applegarth, D. A. and Niederwieser, A. Guanosine triphosphate cyclohydrolase I deficiency: early diagnosis by routine urine pteridine screening.Pediatrics 79 (1987) 374–378Google Scholar
- Niederwieser, A., Blau, N., Wang, M., Joller, P., Atares, M. and Cardesa-Garcia, J. GTP cyclohydrolase I deficiency, a new enzyme defect causing hyperphenylalaninemia with neopterin, biopterin, dopamine, and serotonin deficiencies and muscular hypotonia.Eur. J. Pediatr. 141 (1984) 208–214Google Scholar
- Niederwieser, A., Shintaku, H., Hasler, T., Curtius, H. C., Lehmann, H., Guardamagna, O. and Schmidt, H. Prenatal diagnosis of ‘dihydrobiopterin synthetase’ deficiency, a variant form of phenylketonuria.Eur. J. Pediatr. 145 (1986) 176–178Google Scholar