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Science 4 October 1974:
Vol. 186. no. 4158, pp. 59 - 60
DOI: 10.1126/science.186.4158.59
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Articles

Methionine Adenosyltransferase Deficiency: New Enzymatic Defect Associated with Hypermethioninemia

Gerald E. Gaull 1 and Harris H. Tallan 1

1 Department of Pediatric Research, New York State Institute for Basic Research in Mental Retardation, Staten Island, New York 10314, and Department of Pediatrics and Clinical Genetics Center, Mount Sinai School of Medicine of the City University of New York, New York 10029

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.


THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES:
Hypermethioninemia in an Infant.
R. G. Meny, R. L. Gutberlet, P. Ozand, C. Morris, and C. H. Kim (1978)
Arch Pediatr Adolesc Med 132, 261-262
   Abstract »    PDF »
Biochemical Basis for the Dominant Inheritance of Hypermethioninemia Associated with the R264H Mutation of the MAT1A Gene. A MONOMERIC METHIONINE ADENOSYLTRANSFERASE WITH TRIPOLYPHOSPHATASE ACTIVITY.
I. P. Mato, M. M. Sanchez del Pino, M. E. Chamberlin, S. H. Mudd, J. M. Mato, and F. J. Corrales (2001)
J. Biol. Chem. 276, 13803-13809
   Abstract »    Full Text »    PDF »


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Science. ISSN 0036-8075 (print), 1095-9203 (online)