Korean Journal of Pediatrics 2008;51(5):546-550.
Published online May 15, 2008.
A case of two sisters births from mother with phenylketonuria lacking mental retardation
Chang-Seok Ki1, Jin Kyung Kim2
1Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sung Kyun Kwan University School of Medicine, Korea
2Department of Pediatrics, College of Medicine, Daegu Catholic University, Daegu, Korea
정신 지체가 아닌 페닐케톤뇨증 산모에서 출생한 자매 1례
기창석1, 김진경2
1성균관대학교 의과대학 삼성서울병원 진단검사의학교실
2대구가톨릭대학교 의과대학 소아과학교실
Jin Kyung Kim, Email: kimjk@cu.ac.kr
In this untreated classic phenylketonuria (PKU) case, mental retardation is severe; however, there have been individuals­like the mother of this case­who have escaped mental retardation and all the other potential sequelae of phenylketonuria, despite having high blood phenylalanine levels, and very poor dietary control. It appears that they have nearly normal brain phenylalanine levels despite high blood phenylalanine (Phe) levels. A number of studies have now demonstrated considerable variability in blood vs. brain phenylalanine levels in phenylketonuria patients. Outcome of phenylketonuria appears to be related to brain phenylalanine levels. We report a case of "undiagnosed" maternal phenylketonuria syndrome. A female infant had low birth weight (2,400 g) with microcephaly. We examined her family and discovered that her mother was an undiagnosed phenylketonuria patient with a borderline intelligence quotient (IQ). The infant's sister, six years old, was diagnosed with phenylketonuria at the age of four years was mentally retarded and had received an operation for cleft lip and palate. the sister had also had a low birth weight (2,300 g). Her sister and mother were compound heterozygotes (mother: R243Q/Y325X; sister: Y325X/P407S). The infant and father were heterozygous carriers (baby: R243Q/-; father: P407S/-).
Key Words: Phenylalanine, Phenylalanine hydroxylase, Phenylketonuria, Maternal phenylketonuria syndrome

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