Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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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Gaull GE et al. (1974) Methionine adenosyltransferase deficiency: new enzymatic defect associated with hypermethioninemia. [^] |
| 2. |
Ubagai T et al. (1995) Molecular mechanisms of an inborn error of methionine pathway. Methionine adenosyltransferase deficiency. [^] |
| 3. |
Chamberlin ME et al. (1996) Demyelination of the brain is associated with methionine adenosyltransferase I/III deficiency. [^] |
| 4. |
None (2000) Molecular genetics of hepatic methionine adenosyltransferase deficiency. [^] |
| 5. |
None (2006) Inborn errors of sulfur-containing amino acid metabolism. [^] |
| 6. |
OMIM.ORG article Omim 250850 [^] |
| 7. |
Orphanet article Orphanet ID 168598 [^] |
| 8. |
Wikipedia article Wikipedia EN (Hypermethioninemia) [^] |
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