Abstract
Atypical phenylketonuria (PKU) is a group of very rare and severe diseases caused by tetrahydrobiopterin (BH4) deficiency (Niederwieser and Curtius, 1987). So far three inborn errors of metabolism are known to cause BH4 deficiency. defects in: GTP cyclohydrolase I (GTPCH); 6-pyruvoyl tetrahydropterin synthase (PPH4S); and dihydropteridine reductase (DHPR) (Blau, 1988). Recently a new form of atypical PKU with unusual 7-iso-biopterin excretion in the urine of patients was described (Curtius et al., 1988). Prenatal diagnosis of BH4 deficiency can be achieved mainly by measurement of pterin metabolites in amniotic fluid and of enzyme activities in cultured fluid cells and fetal blood (Blau et al., 1987).
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References
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© 1989 SSIEM and Kluwer Academic Publishers
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Blau, N. et al. (1989). Prenatal Diagnosis of Atypical Phenylketonuria. In: Addison, G.M., Connor, J.M., Harkness, R.A., Pollitt, R.J. (eds) Studies in Inherited Metabolic Disease. Springer, Dordrecht. https://doi.org/10.1007/978-94-009-1069-0_32
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DOI: https://doi.org/10.1007/978-94-009-1069-0_32
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