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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.

Historical Aspects

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
Food intolerance
Genetic hyperbilirubinemia
HADH deficiency
Hereditary disorders protein metabolism
Hereditary lipid disorders
Hypercatabolic hypoproteinemia
Hyperzincemia and hypercalprotectinemia
Hypomethylation syndrome
Lysosomal storage disease
MELAS syndrome
Methionine adenosyltransferase deficiency
Methylmalonic aciduria
Urea cycle disorders



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

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Ubagai T et al. (1995) Molecular mechanisms of an inborn error of methionine pathway. Methionine adenosyltransferase deficiency.

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Chamberlin ME et al. (1996) Demyelination of the brain is associated with methionine adenosyltransferase I/III deficiency.

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None (2000) Molecular genetics of hepatic methionine adenosyltransferase deficiency.

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None (2006) Inborn errors of sulfur-containing amino acid metabolism.

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OMIM.ORG article

Omim 250850 external link

Orphanet article

Orphanet ID 168598 external link

Wikipedia article

Wikipedia EN (Hypermethioninemia) external link
Update: Aug. 14, 2020
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