Isolated persistent hypermethioninemia.

@article{Mudd1995IsolatedPH,
  title={Isolated persistent hypermethioninemia.},
  author={S. Harvey Mudd and Harvey L. Levy and Albert Tangerman and C. Boujet and Neil Buist and A J Davidson-Mundt and Louanne M. Hudgins and K. Oyanagi and Masayoshi Nagao and William G. Wilson},
  journal={American journal of human genetics},
  year={1995},
  volume={57 4},
  pages={882-92}
}
New information has been obtained on 30 patients with isolated persistent hypermethioninemia, most of them previously unreported. Biopsies to confirm the presumptive diagnosis of partially deficient activity of ATP: L-methionine S-adenosyltransferase (MAT; E.C.2.5.1.6) in liver were not performed on most of these patients. However, none showed the clinical findings or the extreme elevations of serum folate previously described in other patients with isolated hypermethioninemia considered not to… CONTINUE READING
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