PEDIATRICS Vol. 41 No. 6 June 1968, pp. 1074-1081
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A CASE OF HISTIDINEMIA CONTROLLED WITH A LOW HISTIDINE DIET

Beryl D. Corner F.R.C.P.1, J. B. Holton Ph.D.1, R. M. Norman M.D.1, and P. M. Williams S.R.D1

1 Departments of Paediatrics, Pathology and Dietetics, Southmead Hospital, and the Burden Neuropathological Laboratory, Bristol

An attempt to treat a case of histidinemia using a low histidine protein hydrolysate is described. The diet was started at the age of 7 months in a male infant with severe clinical disorder. The diagnosis was made at 24 weeks, which is the youngest recorded case.

Good control of histidine metabolism was achieved. There was an initial improvement in growth rate but very little effect on development otherwise. Death from bronchopneumonia occurred in the fourth year.

The brain showed cerebral maldevelopment, likely to be of prenatal origin, as well as typical postepileptic encephalopathy. The etiology of this malformation is discussed in relation to histidinemia and the family history of neurologic disorder.

Accepted on November 30, 1967


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