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Related Experiment Videos

Persistent hypermethioninaemia with dominant inheritance.

H J Blom1, A J Davidson, J D Finkelstein

  • 1Section on Human Biochemical Genetics, Human Genetics Branch, National Institute of Child Health and Human Development, Bethesda, MD 20892.

Journal of Inherited Metabolic Disease
|January 1, 1992
PubMed
Summary
This summary is machine-generated.

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This study identifies a benign form of persistent hypermethioninemia in a family, likely due to dominant inheritance. Findings suggest a potential mutation in the hepatic methionine adenosyltransferase gene.

Area of Science:

  • Biochemistry
  • Genetics
  • Metabolic Disorders

Background:

  • Persistent hypermethioninemia is a rare metabolic condition.
  • Understanding its genetic basis and biochemical pathways is crucial for diagnosis and management.

Observation:

  • A family exhibited persistent hypermethioninemia across three generations with probable dominant inheritance.
  • Affected individuals showed elevated plasma methionine levels (87-475 mumol/L) but normal urinary methionine and homocystine.

Findings:

  • Diminished methionine catabolism was observed upon methionine loading.
  • Fibroblast assays ruled out decreased activity of methionine adenosyltransferase and cystathionine beta-synthase.
  • Normal methylenetetrahydrofolate reductase activity indicated intact homocysteine remethylation.

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Implications:

  • The biochemical profile differs from known methionine degradation defects.
  • Findings suggest a potential mutation in the structural gene for the hepatic methionine adenosyltransferase isoenzyme.
  • This highlights potential genetic heterogeneity in hypermethioninemia.