BACKGROUND: There is not much information on established standard therapy for patients with severe methionine adenosyltransferase (MAT) I/III deficiency. CASE PRESENTATION: 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. CONCLUSIONS: 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.
BACKGROUND: There is not much information on established standard therapy for patients with severe methionineadenosyltransferase (MAT) I/III deficiency. CASE PRESENTATION: 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. CONCLUSIONS: Although some severely MAT I/III deficientpatients 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.
Authors: Lien M Dos Santos; Tatiane M da Silva; Juliana H Azambuja; Priscila T Ramos; Pathise S Oliveira; Elita F da Silveira; Nathalia S Pedra; Kennia Galdino; Carlus A T do Couto; Mayara S P Soares; Rejane G Tavares; Roselia M Spanevello; Francieli M Stefanello; Elizandra Braganhol Journal: Mol Cell Biochem Date: 2016-10-17 Impact factor: 3.396
Authors: Yoo-Mi Kim; Ja Hye Kim; Jin Choi; Kim Gu-Hwan; Jae-Min Kim; Minji Kang; In-Hee Choi; Chong Kun Cheon; Young Bae Sohn; Marco Maccarana; Han-Wook Yoo; Beom Hee Lee Journal: Mol Med Date: 2016-02-18 Impact factor: 6.354