1 Department of Pediatrics, McGill University and Montreal Childrens' Hospital
2 Department of Child Health, University of Glasgow and Royal Hospital for Sick Children, Glasgow
A 14-month-old female infant with seizures, controlled by vitamin B6, was studied. Clinical and biochemical disturbances could be induced or corrected by manipulation of vitamin B6 intake. Seizures, hyperirritability, hyperacousis, and changes in growth rate comprised the important clinical manifestations. Biochemical disturbances affecting metabolism of tryptophan, cystathionine, and taurine were identified. Widespread impairment of PLP availability at apoenzyme sites is implied by the data. Elevated daily requirement for vitamin B6 were found, without excessive intestinal or renal loss of active vitamin, nor obvious vitamin antagonism. This suggested that a systemic abnormality of endogenous vitamin B6 metabolism, not restricted to brain, might account for the "deficiency" syndrome.
Submitted on May 28, 1962