Clinical feature: 

Definition: 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.

History: Hypermethioninemia was first detected by newborn screening of a female infant.

Literature: 

Gaull GE et al. (1974) Methionine adenosyltransferase deficiency: new enzymatic defect associated with hypermethioninemia.
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.
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.