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Histidinaemia in mouse and man
  1. Grahame Bulfield,
  2. Henrik Kacser

    Abstract

    A recently discovered mutant in the mouse was found to have very low levels of histidase. It is an autosomal recessive. In its enzymic and metabolic properties it appears to be a homologue of human histidinaemia. While the homozygous mouse mutants show no overt abnormalities, offspring of histidinaemic mothers display a balance defect resulting in circling behaviour. This is associated with vestibular damage during in utero development. Mental retardation caused by human maternal phenylketonuria may have a similar aetiology.

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