Summary
An adult patient with hereditary tyrosinaemia type I who developed renal failure is reported. She received a renal transplant at the age of 23 years. In childhood her kidney disease was dominated by multiple tubular defects with resulting hypophosphataemic rickets. Metabolic acidosis was the most prominent feature in the years preceding the transplantation. Her kidneys were contracted to 40 g. The major morphological finding was that of a tubulointerstitial nephropathy. Liver biopsies taken at the ages of 5.5 and 23 years showed cirrhotic changes. Crystalloid inclusions in the liver mitochondriae were a prominent finding on electron microscopy. Fumarylacetoacetase was deficient in liver, kidneys, fibroblasts and lymphocytes. The typical biochemical parameters of tyrosinaemia, succinylacetone,p-hydroxyphenyllactate,p-hydroxyphenylpyruvate and serum tyrosine were only slightly elevated. A brief history of a second adult tyrosinaemia patient with decreasing renal function is also given.
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Collier, H. B. A study of the determination of 5-aminolevulinate hydrolyase (δ-aminolevulinate dehydratase) activity in hemolysates of human erythrocytes.Clin. Biochem. 4 (1971) 222–232
Gentz, J., Jagenburg, R. and Zetterstrom, R. Tyrosinemia. An inborn error of tyrosine metabolism with cirrhosis of the liver and multiple renal tubular defects (deToni-Debre-Fanconi syndrome).J. Pediatr. 66 (1965) 670–696
Gentz, J., Lindblad, B., Lindstedt, S. and Zetterstrom, R. Studies on the metabolism of the phenolic acids in hereditary tyrosinemia by a gas-liquid chromatographic method.J. Lab. Clin. Med. 74 (1969) 185–202
Grenier, A., Lescault, A., Laberge, C., Gagne, R. and Mamer, O. Detection of succinylacetone and the use of its measurement in mass screening for hereditary tyrosinemia.Clin. Chim. Acta 123 (1982) 93–99
Jakobs, C., Dorland, L., Wikkerink, B., Kok, R. M., de Jong, A. P. J. M. and Wadman, S. K. Stable isotope dilution analysis of succinylacetone using electron capture negative ion mass fragmetography: an accurate approach to the pre- and neonatal diagnosis of hereditary tyrosinemia type I.Clin. Chim. Acta 223 (1986) 223–232
Jevtic, M. M., Thorp, F. K. and Hruban, Z. Hereditary tyrosinemia with hyperplasia and hypertrophy of juxtaglomerular apparatus.Am. J. Clin. Pathol. 61 (1974) 423–437
Kvittingen, E. A., Halvorsen, S. and Jellum, E. Deficient fumarylacetoacetate fumarylhydrolase activity in lymphocytes and fibroblasts from patients with hereditary tyrosinemia.Pediatr. Res. 14 (1983) 541–544
Kvittingen, E. A., Leonard, J. V., Pettit, B. R. and King, G. S. Concentrations of succinylacetone after homogentisate and tyrosine loading in healthy individuals with low fumarylacetoacetase activity.Clin. Chim. Acta 152 (1985) 271–279
Kvittingen, E. A., Jellum, E., Stokke, O., Flatmark, A., Bergan, A., Sødal, G., Halvorsen, S., Schrumpf, E. and Gjone, E. Liver transplantation in a 23-year-old tyrosinaemia patient: effects on the renal tubular dysfunction.J. Inher. Metab. Dis. 9 (1986) 216–224
Lindblad, B., Friden, J., Greter, J., Holme, E. and Linstedt, S. Treatment of hereditary tyrosinaemia (fumarylacetoacetase deficiency) by enzyme substitution.J. Inher. Metab. Dis. 9 Suppl. 2 (1986) 257–261
Partington, M. W. and Haust, M. D. A patient with tyrosinemia and hypermethioninemia.Can. Med. Assoc. J. 97 (1967) 1059–1067
Weinberg, A. G., Mize, C. E. and Worthen, H. G. The occurrence of hepatoma in the chronic form of hereditary tyrosinemia.J. Pediatr. 88 (1976) 434–438
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Kvittingen, E.A., Talseth, T., Halvorsen, S. et al. Renal failure in adult patients with hereditary tyrosinaemia type I. J Inherit Metab Dis 14, 53–62 (1991). https://doi.org/10.1007/BF01804389
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DOI: https://doi.org/10.1007/BF01804389