Maternal Hyperphenylalaninaemia in Israel

During the 21 years of national newborn screening for phenylketonuria (PKU) in Israel, originally supported by grants from the NIH, Washington (HEW-WA/CB-Israel-9, 1964–1967) and subsequently taken up by the Israeli Ministry of Health (Cohen et al., 1966) an average of over 95% coverage was achieved by 1979, revealing 85 cases of classical PKU, 20 of variant or atypical PKU, and 2 cases of malignant PKU with a biopterin synthetase deficiency (Cohen et al., 1985). In addition, there were 18 cases of high hyperphenylalaninaemia (HPA) with blood phenylalanine levels of 12–16 mg/dL who had never been on diet and 132 mild persistent HPA with blood phenylalanine below 12 mg/dL. No cases of classical PKU have been found amongst ‘pure’ Ashkenazi families whereas atypical and mild HPA are frequently found. Thus, the two classical PKU cases in mixed Ashkenazi families may be due to a double heterozygote effect for the PKU and HPA gene (Cohen et al, 1978)