Dietary treatment eliminates succinylacetone from the urine of a patient with tyrosinaemia type 1
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Over an 18-month period serial observations of plasma tyrosine, methionine and urinary tyrosine metabolites were made and compared with urinary succinylacetone excretion in an infant with tyrosinaemia type 1 treated by diet alone. Despite broadly similar profiles there were significant temporal and quantitative differences between each of these metabolic parameters. Only when plasma tyrosine was kept in the low-normal range by strict phenylalanine restriction (10–15 mg phenylalanine/kg body weight) was detectable succinylacetone consistently eliminated from the urine. Urinary succinylacetone is the only measure of metabolite accumulation immediately proximal to the enzyme defect and its routine measurement will allow more effective control of dietary treatment.
Key wordsTyrosinaemia type 1 Succinylacetone Dietary treatment
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- 1.Berger R (1985) Biochemical aspects of type 1 hereditary tyrosinaemia. In: Bickel H, Wachtel U (eds) Inherited diseases of amino acid metabolism. Thieme, New York, pp 192–202Google Scholar
- 2.Chalmers RA, Lawson AM (1982) Organic acids in man. Chapman and Hall, LondonGoogle Scholar
- 3.Fallström SP, Lindblad B, Lindstedt S, Steen G (1979) Hereditary tyrosinaemia-fumarylacetoacetase deficiency. Pediatr Res 13:78Google Scholar
- 8.Spronsen FJ van, Berger R, Smit GPA, Heymans HSA (1988) Tyrosinaemia type 1: orthotropic liver transplantation as the only definitive answer to a metabolic as well as oncologic problem. Abstracts of the 26th SSIEM Annual Symposium. SSIEM, London, p 169Google Scholar