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). We performed the prenatal diagnosis of DHPR deficiency in two cases (one diagnosed as homozygote and one as heterozygote), and of PPH4S deficiency in four cases (one diagnosed as homozygote, one as heterozygote, and two as normal). Our results suggest that measurement of neopterin and biopterin by HPLC in amniotic fluid is adequate. But it is recommended that diagnosis should be confirmed by enzyme measurements.
Prenatal Diagnosis of Atypical Phenylketonuria / N, Blau; A, Niederwieser; H Ch, Curtius; L, Kierat; W, Leimbacher; A, Matasovic; F, Binkert; H, Lehmann; D, Leupold; O, Guardamagna; A, Ponzone; H, Schmidt; T, Coskun; I, Ozalp; R, Giugliani; Biasucci, G; M, Giovannini. - In: JOURNAL OF INHERITED METABOLIC DISEASE. - ISSN 0141-8955. - 12:(1989), pp. 295-298. [10.1007/BF03335403]
Prenatal Diagnosis of Atypical Phenylketonuria
BIASUCCI G;
1989-01-01
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). We performed the prenatal diagnosis of DHPR deficiency in two cases (one diagnosed as homozygote and one as heterozygote), and of PPH4S deficiency in four cases (one diagnosed as homozygote, one as heterozygote, and two as normal). Our results suggest that measurement of neopterin and biopterin by HPLC in amniotic fluid is adequate. But it is recommended that diagnosis should be confirmed by enzyme measurements.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
