Genetics and biochemistry of the phenylketonuria-present state

  title={Genetics and biochemistry of the phenylketonuria-present state},
  author={Klaus Bartholom{\'e}},
  journal={Human Genetics},
Phenylketonuria is an autosomal recessive inherited disease caused by a disturbance in the phenylalanine hydroxylating system. Phenylalanine is converted to tyrosine by phenylalanine hydroxylase, which is located mainly in the liver. This enzyme needs the reduced cofactor tetrahydrobiopterin to be active. In phenylketonuria, low or zero enzyme activity is measured. Enzyme activity higher than 5% compared with that in normal controls is correlated to hyperphenylalaninemia. Dihydropteridine… CONTINUE READING

From This Paper

Figures, tables, results, connections, and topics extracted from this paper.
2 Extracted Citations
24 Extracted References
Similar Papers

Citing Papers

Publications influenced by this paper.

Referenced Papers

Publications referenced by this paper.
Showing 1-10 of 24 references

L - DOPA and 5 - hydroxytryptophan therapy in phenylketonuria with normal phenylalanine hydroxylase activity

  • D. J. Byrd, S. Kaufman, S. Milstien
  • Lancet
  • 1975

Phenylalanine hydroxylase ofMacaca irus

  • J. Dancis, J. Hutzler, S. E. Snyderman, R. P. Cox
  • Eur . J . Biochem .
  • 1975

A new molecular defect in phenylketonuria

  • P. Lutz, H. Bickel
  • Lancet
  • 1974

Atypical phenylketonuria accompanied by a severe progressive neurological illness unresponsive to dietary treatment

  • S. L. C. Woo, S. S. Gillam, L. I. Woolf
  • Arch . Dis . Child .
  • 1974

The isolation and properties of phenylalanine hydroxylase from human liver

  • L. I. Woolf, B. L. Goodwin, W. I. Cranston, F. Woolf
  • Biochem . J .
  • 1974

Similar Papers

Loading similar papers…