Maternal histidine metabolism and its effect on foetal development in the mouse

Abstract

THERE have been reports^1,2 of possible deleterious effects on the mental development of children due to maternal histidinaemia, in which a deficiency of the enzyme histidase leads to the exposure of the foetus to abnormally high concentrations of histidine and its imidazole derivatives. This is analagous to the well established case of maternal phenylketonuria³ which can lead to mental retardation in metabolically normal children. There is also a suggested link⁴ between low maternal concentrations of two enzymes in galactose metabolism and infantile cataracts. We report here work on the nature of the maternal effects of histidinaemia using mutant mice which are the homologues of the human condition^5–7.