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Related Experiment Videos

Isolated persistent hypermethioninemia

S H Mudd1, H L Levy, A Tangerman

  • 1Laboratory of General and Comparative Biochemistry, National Institute of Mental Health, Bethesda, MD 20892-4094, USA.

American Journal of Human Genetics
|October 1, 1995
PubMed
Summary
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Persistent hypermethioninemia in 30 patients, mostly new cases, showed no neurological issues or extreme folate elevations. Most patients had normal development, suggesting a distinct condition from hepatic MAT deficiency.

Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Isolated persistent hypermethioninemia is a rare metabolic disorder.
  • Previous studies suggested a link to hepatic ATP: L-methionine S-adenosyltransferase (MAT) deficiency.
  • Clinical and biochemical heterogeneity exists among affected individuals.

Purpose of the Study:

  • To characterize a cohort of 30 patients with isolated persistent hypermethioninemia.
  • To differentiate this condition from hepatic MAT deficiency.
  • To investigate clinical, biochemical, and inheritance patterns.

Main Methods:

  • Biochemical analysis of plasma methionine and metabolites.
  • Assessment of neurological and developmental status (IQ, Bayley scores).

Related Experiment Videos

  • Analysis of urinary organic acids and plasma creatinine.

    • Main Results:

    • Most patients (27/30) exhibited normal neurological development and IQ scores.
    • Abnormal accumulation of methionine transamination metabolites occurred above 300-350 microM.
    • No extreme serum folate elevations were observed, distinguishing them from hepatic MAT deficiency cases.
    • Variable inheritance patterns were noted.

    Conclusions:

    • Isolated persistent hypermethioninemia, as observed in this cohort, is largely benign with normal neurodevelopment.
    • The condition appears distinct from hepatic MAT deficiency, characterized by specific biochemical thresholds.
    • Further research into optimal management strategies is warranted.