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• W2085998059 abstract "There is not much information on established standard therapy for patients with severe methionine adenosyltransferase (MAT) I/III deficiency.We report a boy with MAT I/III deficiency, in whom plasma methionine and total homocysteine, and urinary homocystine were elevated. Molecular genetic studies showed him to have novel compound heterozygous mutations of the MAT1A gene: c.191T>A (p.M64K) and c.589delC (p.P197LfsX26). A low methionine milk diet was started at 31 days of age, and during continuing dietary methionine restriction plasma methionine levels have been maintained at less than 750 μmol/L. He is now 5 years old, and has had entirely normal physical growth and psychomotor development.Although some severely MAT I/III deficient patients have developed neurologic abnormalities, we report here the case of a boy who has remained neurologically and otherwise normal for 5 years during methionine restriction, suggesting that perhaps such management, started in early infancy, may help prevent neurological complications." @default.
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• W2085998059 date "2013-11-01" @default.
• W2085998059 modified "2023-09-23" @default.
• W2085998059 title "Neurologically normal development of a patient with severe methionine adenosyltransferase I/III deficiency after continuing dietary methionine restriction" @default.
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• W2085998059 doi "https://doi.org/10.1016/j.gene.2013.08.025" @default.
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