Abstract
The adverse effect of maternal PKU on the fetus has led to concern about the potential for fetal damage in other maternal inborn errors of metabolism. Maternal histidinemia has been associated with lowered intelligence among offspring, and in mice, with a balancing defect and inner ear changes in offspring. We routinely screened filter paper cord blood specimens for histidine by the Guthrie assay and identified seven mothers with histidinemia among 230,362 specimens. Assuming 40% rescreening, this is a frequency of 1:20,000. Five families could be studied. Maternal plasma histidine ranged from 586 uM to 1023 uM. All mothers had absent skin urocanic acid. Among 14 untreated pregnancies, 13 produced liveborn full-term offspring, and one ended in spontaneous abortion. Eleven of 13 offspring had normal measurements at birth, including head circumferences; 2/13 were SGA. Congenital anomalies included bilateral clubfoot in one infant and hip dislocation in another. Three offspring in one family also had histidinemia. At the time of evaluation (age 4.4 ± 3.0 yrs), all offspring except one had normal weight, height, and head circumference; one was FTT. IQ among offspring (n=9) was 103.8 ± 18.0 (range 82-139) compared to maternal IQ (n=5) 102.0 ± 18.7 (range 80-130). Offspring DQ (n=3) ranged from 106-128. There were no physical defects, and neurological assessments were normal. Maternal histidinemia seems to have no adverse effect on the fetus.
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Levy, H., Benjamin, R. 838 MATERNAL HISTIDINEMIA: STUDY OF FAMILIES IDENTIFIED BY ROUTINE CORD BLOOD SCREENING. Pediatr Res 19, 250 (1985). https://doi.org/10.1203/00006450-198504000-00868
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DOI: https://doi.org/10.1203/00006450-198504000-00868