Abstract
Summary: Untreated pregnancies and their outcomes were studied in 10 women with histidinaemia and their 26 pregnancies. The mean maternal assigned histidine level was 727±186 µmol/L (range 484–1053). Six women had classic histidinaemia (assigned level>700 µmol/L) and the remaining four had mild (atypical) histidinaemia. The pregnancies were uneventful, with only one spontaneous loss and 25 live births. Birth measurements were normal and no congenital anomalies were observed. Growth and development were normal in all offspring. IQ among the 23 offspring tested was 103±12 (range 79–122). Four offspring required special education for brief periods and one for several years, but this frequency, as well as that of 12% for attention deficit hyperactive disorder, was not significantly different from expected in the general population. It would appear that maternal histidinaemia, unlike maternal phenylketonuria, can be added to the list of maternal inborn errors of metabolism that are nonteratogenic.
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Levy, H.L., Yu, J.J. & Waisbren, S.E. Maternal histidinaemia: Pregnancies and offspring outcomes. J Inherit Metab Dis 27, 197–204 (2004). https://doi.org/10.1023/B:BOLI.0000028783.35805.dd
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DOI: https://doi.org/10.1023/B:BOLI.0000028783.35805.dd