RECOVERY AFTER DIETARY TREATMENT OF AN INFANT WITH FEATURES OF TYROSINOSIS

A diagnosis of tyrosinosis was made in a 5-month-old child who presented with obstructive jaundice and developmental retardation; she had raised levels of plasma tyrosine, phenylalanine, and methionine; hypophosphataemia, phosphaturia, and a generalized aminoaciduria, together with increased excretion of phenolic acids; and she subsequently developed rickets. On a diet restricted in tyrosine, phenylalanine, and methionine, she made an excellent clinical and biochemical response, and at the age of 17 months (1 year after the start of dietary treatment) it was found possible to reintroduce a normal diet. It is possible that the basic disorder is different from that present in other cases of tyrosinosis. We thank Dr. W. H. P. Cant for allowing us to publish details of the first hospital admission, Mrs. S. Evans for technical help, and Dr. P. Smith for the chromatogram reproduced in Fig. 5. Treatment would have been impossible without the work of Miss D. M. Francis and her staff in the Dietetic Department, to whom we are most grateful. J. W. T. S. also thanks the Nuffield Foundation and the Joint Research Board of The Hospital for Sick Children and the Institute of Child Health for financial support.