ON THE RENAL TUBULAR DAMAGE IN HEREDITARY TYROSINEMIA AND ON THE FORMATION OF SUCCINYLACETOACETATE AND SUCCINYLACETONE1

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Abstract
Phenylalanine and homogentisate increase the concentration of succinylacetoacetate and succinylacetone both in serum and urine in children with hereditary tyrosinemia and increase the excretion of 5-aminolevulinate. Both phenylalanine and homogentisate cause a tubular proteinuria which is in agreement with the hypothesis that their metabolites maleylacetoacetate and fumarylacetoacetate are the toxic compounds in hereditary tyrosinemia. The patient with the highest excretion of succinylacetoacetate and succinylacetone has the slightest tubular proteinuria whereas the 1 with the lowest excretion of these compounds has the more pronounced tubular proteinuria. Apparently this is caused by a difference in the ability to reduce the presumed toxic compounds fumarylacetoacetate and maleylacetoacetate, i.e., the precursors of succinylacetoacetate.