Inquiry On Rare Disease By Health Department

Press, Volume C, Issue 29556, 4 July 1961, Page 14

Inquiry On Rare Disease By Health Department

An investigation is being made by the Health Department into phenylketonuria, a disease responsible for the condition of from 1 per cent, to 2 per cent, of the intellectually handicapped. Last October, the department instituted a scheme for the routine testing of all new-born babies for the disease, which is treatable If discovered at that stage, and a check is now being made to see whether any cases have been found.

The inquiry is taking the form of a circular from district offices of the department to all general medical practitioners. Testing for the disease has been left to the mothers, who are asked to send the results to their family doctors. The inquiry will establish, among other things, how effective this procedure has been in ensuring that all babies are tested. It is rather unlikely that any actual case of the disease will so far have appeared, as on average only one baby in about 20 000 is affected Phenylketonuria is a congenital defect of the metabolic

system, the characteristics being mental defect and the excretion of phenytoyruvic acid in the urine. The test consists of inserting a paper sensitised to the acid in the baby's wet napkins, and watching for a colour change. Treatment is by giving the baby a diet free from phenylaniline, an amino-acid present in the normal diet. The diet for a young baby must be made up as a special protein mix, supplemented progressively by other foods known not to contain phenylaniline. As far as is known. New Zealand is the first country in the world where testing tor phenylketonuria has been made a part of routine baby care.