title: Neurologically normal development of a patient with severe methionine adenosyltransferase I/III deficiency after continuing dietary methionine restriction.
abstract: BACKGROUND
  There is not much information on established standard therapy for patients with severe methionine adenosyltransferase (MAT) I/III deficiency.
  
  
  METHODS
  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.
authors: Department of Pediatrics, Ina Central Hospital, Ina, Japan; Department of Pediatrics, Shinshu University School of Medicine, Matsumoto, Japan. Electronic address: kohira@shinshu-u.ac.jp.
authors: Koichi
authors: K
authors: Hirabayashi
authors: Masaaki
authors: M
authors: Shiohara
authors: Kazuhiro
authors: K
authors: Yamada
authors: Akane
authors: A
authors: Sueki
authors: Yuichiro
authors: Y
authors: Ide
authors: Koichi
authors: K
authors: Takeuchi
authors: Rokuro
authors: R
authors: Hagimoto
authors: Tatsuya
authors: T
authors: Kinoshita
authors: Akihiko
authors: A
authors: Yabuhara
authors: S Harvey
authors: SH
authors: Mudd
authors: Kenichi
authors: K
authors: Koike
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors / Q000235:genetics* / Q000473:pathology; D002675:Child, Preschool; D050938:Glycine N-Methyltransferase / Q000172:deficiency; D006579:Heterozygote; D006710:Homocysteine / Q000097:blood / Q000652:urine; D006801:Humans; D008297:Male; D008715:Methionine / Q000097:blood; D008716:Methionine Adenosyltransferase / Q000172:deficiency* / Q000235:genetics*; D009154:Mutation; D009422:Nervous System Diseases / Q000235:genetics / Q000473:pathology
chemical_list: D006710:Homocysteine; D008715:Methionine; D050938:Glycine N-Methyltransferase; C506577:MAT1A protein, human; D008716:Methionine Adenosyltransferase
keywords: ALT; AST; AdoMet; CBS; CNS; DNA; DQ; Dietary methionine restriction; Homocystinuria; Hypermethioninemia; KSPD; Kyoto Scale of Psychological Development; MAT; MRI; Methionine adenosyltransferase I/III deficiency; ND; NH(3); PCR; Psychomotor development; S-adenosylmethionine; alanine aminotransferase; ammonia; aspartate aminotransferase; central nervous system; cystathionine β-synthase; deoxyribonucleic acid; developmental quotient; magnetic resonance imaging; methionine adenosyltransferase; not detectable; polymerase chain reaction; tHcy; total homocysteine