Assuntos
Corpo Caloso/diagnóstico por imagem , Encefalite/líquido cefalorraquidiano , Encefalite/diagnóstico por imagem , Proteínas de Neurofilamentos/líquido cefalorraquidiano , Adolescente , Biomarcadores/sangue , Biomarcadores/líquido cefalorraquidiano , Criança , Pré-Escolar , Encefalite/sangue , Feminino , Humanos , Lactente , Imageamento por Ressonância Magnética , MasculinoRESUMO
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.