Related Experiment Videos
Methionine adenosyltransferase deficiency: new enzymatic defect associated with hypermethioninemia
Science (New York, N.Y.)
|October 4, 1974
Insights
A liver enzyme deficiency, methionine adenosyltransferase, caused hypermethioninemia in an infant. This genetic disorder likely requires mass screening to identify other affected individuals.
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
Background:
- Hypermethioninemia is a rare metabolic disorder.
- Methionine adenosyltransferase (MAT) is a key enzyme in methionine metabolism.
Purpose of the Study:
- To investigate the cause of hypermethioninemia in an infant.
- To determine the role of methionine adenosyltransferase (MAT) deficiency.
Main Methods:
- Enzyme activity assays on liver tissue.
- Clinical evaluation of the infant.
Main Results:
- Demonstrated a specific deficiency of methionine adenosyltransferase (MAT) in the infant's liver.
- Enzymatic activity was lower than in fetal liver samples.
- The metabolic abnormality persisted up to 1 year of age.
Conclusions:
- The findings suggest a probable genetic mutation causing MAT deficiency.
- Hypermethioninemia in this case is linked to a specific enzyme defect.
- Mass screening for hypermethioninemia could identify additional cases.
Abstract:
A specific deficiency of methionine adenosyltransferase has been demonstrated in the liver of an infant with hypermethioninemia. Since the enzymatic activity was below that in fetal liver and the metabolic abnormality has persisted (the infant now being 1 year of age), there is probably a genetic mutation. Mass screening for hypermethioninemia may uncover more such cases.