Four-Hydroxyphenylpyruvic Acid Oxidase Deficiency with Normal Fumarylacetoacetase: a New Variant Form of Hereditary Hypertyrosinemia

@article{Endo1983FourHydroxyphenylpyruvicAO,
  title={Four-Hydroxyphenylpyruvic Acid Oxidase Deficiency with Normal Fumarylacetoacetase: a New Variant Form of Hereditary Hypertyrosinemia},
  author={Fumio Endo and Akito Kitano and Itsuko Uehara and Noriyuki Nagata and Ichiro Matsuda and Toshihiro Shinka and Tomiko Kuhara and Isamu Matsumoto},
  journal={Pediatric Research},
  year={1983},
  volume={17},
  pages={92-96}
}
Summary: Enzymatic studies on the liver of an infant are described-a case of hypertyrosinemia without hepatic dysfunction. His parents were siblings and the mother had hypertyrosinemia. Excessive amounts of 4-hydroxyphenylpyruvic acid (pHPP), 4-hydroxyphenylacetic acid (pHPL), and 4-hydroxyphenylacetic acid (pHPA) were found to be excreted in the patient's urine as well as in the urine of the mother and the inhibitor of porphobilinogen synthetase was not found. Soluble tyrosine aminotransferase… CONTINUE READING

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References

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Showing 1-10 of 29 references

Studies on hereditary tyrosinemia

  • E. A. Kvittingen, E. Jellum, S. Halvorsen
  • Pediatr . Res .
  • 1981

Hypertyrosinemia with an atypical clinical course

  • F. Endo, A Kitano, I. Uehara, N. Nagata, I. Matsuda
  • Proc. Jap. Soc. Med. Mass. Spec., 5: 154
  • 1980
1 Excerpt

Hereditary tyrosinemiafumarylacetoacetase deficiency

  • S. P. Fallstrom, B. Lindblad, S. Lindsted, G. Steen
  • Pediatr . Res .
  • 1979

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