1/3. Maternal phenylketonuria.pregnant women with untreated phenylketonuria (PKU) with blood phenylalanine levels greater than 1200 mumol/L usually give birth to offspring with congenital birth defects, including microcephaly, cardiac defects and mental retardation. According to Mabry and Levy, hyperphenylalaninaemic (HPA) women with blood phenylalanine levels between 600 and 1200 mumol/L also have an increased risk to their offspring. To study this problem further, the National Institute of child health and human development has established a collaborative study for 7 years to elucidate a proper treatment programme for these women.- - - - - - - - - - ranking = 1keywords = programme (Clic here for more details about this article) |
2/3. A Chinese family with phenylketonuria and maternal phenylketonuria detected by family screening.A 16-year-old boy with classical phenylketonuria (PKU) and mild mental retardation (IQ 69) was detected by the screening of mentally retarded school children in taiwan with Guthrie's bacterial inhibition assay. The follow-up family study showed that one of his married elder sisters suffered from borderline mental retardation (IQ 75) and was also diagnosed as a classical case of PKU. She had borne one boy and one girl, both suffering from mild mental retardation, microcephaly, delay in linguistic development and severe growth retardation. This is the first known Chinese family with maternal PKU. To prevent future mental retardation caused by maternal PKU, the simultaneous establishment of a register system with a neonatal screening programme, is indicated for the follow-up of PKU girls, screening of the whole family of newly discovered PKU cases, and to exclude unrecognized maternal PKU in women who have given birth to a microcephalic child.- - - - - - - - - - ranking = 1keywords = programme (Clic here for more details about this article) |
3/3. Maternal phenylketonuria: abnormal baby despite low phenylalanine diet during pregnancy.During a screening programme of 10000 pregnant women by the Guthrie test, a previously unrecognised phenylketonuric woman was detected. A low phenylalanine diet introduced from the 16th week of gestation failed to prevent fetal abnormality and mental retardation. Maternal phenylketonuria requires earlier diagnosis than can be achieved at the initial antenatal clinic visit if its teratogenic effects are to be prevented.- - - - - - - - - - ranking = 1keywords = programme (Clic here for more details about this article) |