Persistent hypermethioninaemia with dominant inheritance

@article{Blom1992PersistentHW,
  title={Persistent hypermethioninaemia with dominant inheritance},
  author={D. H. J. Blom and Alan J Davidson and James D. Finkelstein and Anthony S. Luder and Isa M Bernardini and John J. Martin and Albert Tangerman and J. M. F. Trijbels and S. Harvey Mudd and Stephen I. Goodman and William A Gahl},
  journal={Journal of Inherited Metabolic Disease},
  year={1992},
  volume={15},
  pages={188-197}
}
SummaryA clinically benign form of persistent hypermethioninaemia with probable dominant inheritance was demonstrated in three generations of one family. Plasma methionine concentrations were between 87 and 475 µmol/L (normal mean 26 µmol/L; range 10–40 µmol/L); urinary methionine and homocystine concentrations were normal. Plasma homocystine, cystathionine, cystine and tyrosine were virtually normal. The concentrations in serum and urine of metabolites formed by the methionine transamination… CONTINUE READING

References

Publications referenced by this paper.
SHOWING 1-10 OF 36 REFERENCES

Methionine metabolism in mammals.

  • The Journal of nutritional biochemistry
  • 1990
VIEW 3 EXCERPTS

rat liver by S-adenosylmethionine

P Labrune, JL Perignon, M Rault
  • Biochim Biophys Acta
  • 1990

Disorders of transsulfuration

SH Madd, HL Levy, F Skovby
  • 1989

Tangerman A (1989b) Transamination of methionine in humans

H JBlom, GHJ Boers, PAM van den Elzen, WA Gahl
  • Clin Sei
  • 1989