Abstract
Dihydropteridine reductase (DHPR, EC 1.6.99.7) deficiency (McKusick 26163) is a rare cause of hyperphenylalaninaemia and neurological disease. It is important to distinguish it from the more prevalent cause of these, phenylalanine hydroxylase deficiency (McKusick 26160), as the treatment in the two cases is different (for review see Danks et al., 1978; Dhondt, 1984). DHPR activity can be readily measured in dried blood spots on Guthrie cards (Arai et al., 1982; Leeming et al., 1984). We have used this technique to screen for DHPR deficiency in control and hyperphenylalaninaemic neonates.
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Arai, N., Narisawa, K., Hayakawa, H. and Tada, K. Hyperphenylalaninaemia due to dihydropteridine reductase deficiency: Diagnosis by enzyme assays on dried blood spots. Pediatrics 70 (1982) 426–430
Danks, D. M., Bartholome, K., Clayton, B. E., Curtius, H., Grobe, H., Kaufman, S., Leeming, R. J., Pfleiderer, W., Rembold, H. and Rey, F. Malignant hyperphenylalaninaemia: Current status (June 1977). J. Inker. Metab. Dis. 1 (1978) 49–53
Dhondt, J. L. Tetrahydrobiopterin deficiencies. Preliminary analysis from an international survey. J. Pediatr. 104 (1984) 501–508
Leeming, R. J., Barford, P. A., Blair, J. A. and Smith, I. Blood spots on Guthrie cards can be used for inherited tetrahydrobiopterin deficiency screening in hyperphenyl-alaninaemic infants. Arch. Dis. Child. 59 (1984) 58–61
Young, J. H., Kelly, B. and Clayton, B. E. Reduced levels of biopterin and dihydropteridine reductase in Alzheimer type dementia. J. Clin. Exp. Gerontol. 4 (1982) 389–402
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© 1985 SSIEM and MTP Press Limited
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Sahota, A., Blair, J.A., Barford, P.A., Leeming, R.J., Green, A., PollittS, R.J. (1985). Neonatal Screening for Dihydropteridine Reductase Deficiency. In: Addison, G.M., Bartlett, K., Harkness, R.A., Pollitt, R.J. (eds) Inherited Disorders of Vitamins and Cofactors. Springer, Dordrecht. https://doi.org/10.1007/978-94-011-8019-1_21
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DOI: https://doi.org/10.1007/978-94-011-8019-1_21
Publisher Name: Springer, Dordrecht
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