Original Article

Journal of Investigative Dermatology (1979) 73, 530–532; doi:10.1111/1523-1747.ep12541401

Hepatic Enzymes of Tyrosine Metabolism in Tyrosinemia II

Lowell A Goldsmith, Judith Thorpe and Charles R Roe

Division of Dermatology, Department of Medicine and Division of Pediatric Metabolism, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina

Received 28 February 1979; Accepted 22 June 1979.

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Abstract

A middle-aged adult male with a mild form of tyrosinemia II (Richner-Hanhart syndrome) is described. Treatment with a low-tyrosine diet caused a fall in plasma tyrosine and clearing of the hyperkeratosis of the soles. Liver biopsy of this patient revealed low but measurable levels of cytoplasmic tyrosine aminotransferase and elevated levels of the mitochondrial tyrosine-metabolizing enzyme aspartate aminotransferase. It is hypothesized that these enzymes have been induced in sufficient amounts to account for the mild clinical course.

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References

  1. Goldsmith, LA: Molecular biology and molecular pathology of a newly described molecular disease—tyrosinemia II (The Richner-Hanhart syndrome). Exp Cell Biol 1978 46: 96–113,  | PubMed | ChemPort |
  2. Diamondstone, TI: Assay of tyrosine transminase activity by conversion of p-hydroxyphenylpyruvate to p-hydroxybenzaldehyde. Analyt Biochem 1966 16: 305–401,
  3. Banks, BEC, Doonan, S, Lawrence, AJ, Vernon, CA: The molecular weight and other properties of asparate aminotransferase from pig heart muscle. Eur J Biochem 1968 5: 528–539,  | Article | PubMed | ChemPort |
  4. Lowry, OH, Rosebrough, NJ, Farr, AL, Randall, RJ: Protein measurement with the folin phenol reagent. J Biol Chem 1951 193: 265–275,  | PubMed | ISI | ChemPort |
  5. Gehrke, CW, Roach, D: Gas liquid chromatography of amino acids. J Chromatog 1969 43: 303–310,  | Article | ChemPort |
  6. Goldsmith, LA, Reed, J: Tyrosine induced eye and skin lesions in humans. A Treatable disease. JAMA 1976 236: 382–384,  | Article | PubMed | ChemPort |
  7. Fellman, JH, Vanbellinghen, RJ, Jones, RT, Koler, RD: Soluble and mitochondrial forms of tyrosine aminotransferase. Relationship to human tyrosinemia. Biochemistry 1969 8: 615–622,  | Article | PubMed | ChemPort |
  8. Sapico, V, Shear, L, Litwack, G: Translocation in inducible tyrosine aminotransferase to the mitochondrial fraction. Facilitation by acute uremia and other conditions. J Biol Chem 1974 249: 2122–2129,  | PubMed | ChemPort |
  9. Faull, KF, Gan, I, Halpern, B, Hammond, J, Im, S, Cotton, RGH, Danks, DM, Freeman, R: Metabolic studies in two patients with nonhepatic tyrosinemia using deuterated tyrosine loads. Pediat Res 1977 11: 631–637,  | PubMed | ChemPort |
  10. Buist, NRM, Fellman, JH, Kennaway, N: Letter to the Editor: Metabolic studies in tyrosinemia. Pediat Res 1978 12: 56–57,  | PubMed | ChemPort |
  11. Danks, DM: Letter to the Editor: Reply to Dr. Buist. Pediat Res 1978 12: 57–58,

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