Treatment of two children with hereditary tyrosinaemia type I and long-standing renal disease with a 4-hydroxyphenylpyruvate dioxygenase inhibitor (NTBC)

Journal of Inherited Metabolic Disease

Volumn 19, Issue 2, 1996, Pages 234-238

  Pronicka, E ^a   Rowinska, E ^a   Bentkowski, Z ^a   Zawadzki, J ^a   Holme, E ^b   Lindstedt, S ^b  

^a CHILDREN'S MEMORIAL HEALTH INSTITUTE   (Poland)

^b SAHLGRENSKA UNIVERSITY HOSPITAL   (Sweden)

Author keywords

[No Author keywords available]

Indexed keywords

4 HYDROXYPHENYLPYRUVATE DIOXYGENASE; ENZYME INHIBITOR;

CASE REPORT; CHILD; CLINICAL FEATURE; CONFERENCE PAPER; DRUG EFFICACY; FEMALE; HUMAN; INFANT; KIDNEY DISEASE; KIDNEY FUNCTION; KIDNEY TUBULE DISORDER; MALE; RICKETS; TYROSINEMIA;

4-HYDROXYPHENYLPYRUVATE DIOXYGENASE; AMINO ACID METABOLISM, INBORN ERRORS; CHILD; CYCLOHEXANONES; ENZYME INHIBITORS; FEMALE; HUMANS; KIDNEY DISEASES; MALE; NITROBENZOATES; OSTEOPOROSIS; PHOSPHATES; REFERENCE VALUES; TYROSINE; URIC ACID;

EID: 0029984561     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF01799438     Document Type: Conference Paper

References (10)

1. Edelmann Jr CM, Soriano JR, Boichis H, Graskin AB, Acosta MI (1967) Renal bicarbonate reabsorption and hydrogen ion excretion in normal infants. J Clin Invest 46: 1309-1317.
2. Gibbs TC, Payan J, Brett EM, Lindstedt S, Holme E, Clayton P (1993) Peripheral neuropathy as the presenting feature of tyrosinemia type I and effectively treated with an inhibitor of 4-hydroxyphenylpyruvate dioxygenase. J Neural Neurosurg Psychiatry 56: 1129-1132.
3. Kvittingen EA, Talseth T, Halvorsen S, Jakobs C, Hovig T, Flatmark A (1991) Renal failure in adult patients with hereditary tyrosinaemia type I. J Inher Metab Dis 14: 53-62.
4. Laine J, Salo MK, Krogerus L, Kärkkäinen J, Wahlroos Ö, Holmberg C (1995) The nephropathy of type I tyrosinemia after liver transplantation. Pediatr Res 37: 640-645.
5. Lindstedt S, Holme E, Lock EA, Hjalmarsson O, Strandvik B (1992) Treatment of hereditary tyrosinaemia type I by inhibition of 4-hydroxyphenylpyruvate dioxygenase. Lancet 340: 813-817.
6. McKiernan PJ, Preece MA, Green A, et al (1994) Successful treatment of life threatening neurological crises in tyrosinaemia type 1 with NTBC. Proc 32nd SSIEM Annual Symposium, Edinburgh, Oral presentation 11.
7. Mitchell GA, Lambert M, Tanguay RM (1995) Hypertyrosinemia. In Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease, 7th edn. New York: McGraw-Hill, 1077-1106.
8. Shoemaker LR, Strife F, Balistreri WF, Ruckman PC (1992) Rapid improvement in the renal tubular dysfunction associated with tyrosinemia following hepatic replacement. Pediatrics 89: 251-255.
9. van Spronson FJ, Thomasse Y, Smit GPA, et al (1994) Hereditary tyrosinemia type I: a new clinical classification with difference in prognosis on dietary treatment. Hepatology 20: 1187-1191.
10. Tuchman M, Freese DK, Sharp HL, et al (1987) Contribution of extrahepatic tissues to biochemical abnormalities in hereditary tyrosinemia type I: study of three patients after liver transplantation. J Pediatr 110: 399-403.