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Comment on the Diagnosis of Inborn Errors of Metabolism in Australia

Danks, D. M. (1976). Aust. paediat. J., 12, 95–101. Comment on the diagnosis of inborn errors of metabolism in Australia. Diagnosis of inborn errors of metabolism is important to the patient because effective treatment is available for some conditions, to the family because high risks of recurrence in siblings are usual, and to the community which may be relieved of the cost of supporting handicapped children. Finally, study of these conditions is constantly adding to knowledge of biochemistry and physiology with benefit to the whole of medicine. Screening of the whole newborn community is appropriate in a few diseases, but prompt diagnosis in symptomatic patients is the main approach in the majority. The laboratory techniques required are complex and will become more complex. Some degree of rationalization of laboratory services between Australian cities is desirable.