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]
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Orphanet article Orphanet ID 168598 |
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Wikipedia article Wikipedia EN (Hypermethioninemia) |