Methionine adenosyltransferase deficiency
Isolated persistent hypermethioninemia is an autosomal recessive or dominant inborn error of sulfur-containing amino acid metabolism. The clinical picture is dominated by growth retardation, anorexia, and digestive disturbances. Management consists of low-methionine diet.
Hypermethioninemia was first detected by newborn screening of a female infant.[Error: Macro 'ref' doesn't exist]
Gaull GE et al. (1974) Methionine adenosyltransferase deficiency: new enzymatic defect associated with hypermethioninemia.[^]
Ubagai T et al. (1995) Molecular mechanisms of an inborn error of methionine pathway. Methionine adenosyltransferase deficiency.[^]
Chamberlin ME et al. (1996) Demyelination of the brain is associated with methionine adenosyltransferase I/III deficiency.[^]
Chou JY et al. (2000) Molecular genetics of hepatic methionine adenosyltransferase deficiency.[^]
Finkelstein JD et al. (2006) Inborn errors of sulfur-containing amino acid metabolism.[^]