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]
|Hereditary metabolic diseases|
|Coenzyme Q10 deficiency|
|Congenital disorder of glycosylation|
|Disorders of cobalamin metabolism|
|Disorders of iron metabolism|
|Disorders of urate metabolism|
|Disturbances in phosphate metabolism|
|Disturbances of glucose metabolism|
|Hereditary disorders protein metabolism|
|Hereditary lipid disorders|
|Hyperzincemia and hypercalprotectinemia|
|Lysosomal storage disease|
|Methionine adenosyltransferase deficiency|
|Urea cycle disorders|
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.
None (2000) Molecular genetics of hepatic methionine adenosyltransferase deficiency.
None (2006) Inborn errors of sulfur-containing amino acid metabolism.
OMIM.ORG articleOmim 250850
Orphanet articleOrphanet ID 168598
Wikipedia articleWikipedia EN (Hypermethioninemia)