Neurologically normal development of a patient with severe methionine adenosyltransferase I/III deficiency after continuing dietary methionine restriction |
| |
Authors: | Koichi Hirabayashi Masaaki Shiohara Kazuhiro Yamada Akane Sueki Yuichiro Ide Koichi Takeuchi Rokuro Hagimoto Tatsuya Kinoshita Akihiko Yabuhara S Harvey Mudd Kenichi Koike |
| |
Institution: | 1. Department of Pediatrics, Ina Central Hospital, Ina, Japan;2. Department of Pediatrics, Shinshu University School of Medicine, Matsumoto, Japan;3. Department of Biotechnology and Life Science, Tokyo University of Agriculture and Technology, Koganei, Japan;4. Department of Laboratory Medicine, Shinshu University School of Medicine, Matsumoto, Japan;5. Department of Pediatric Interdisciplinary Medicine, Nagano Children''s Hospital, Azumino, Japan;6. Laboratory of Molecular Biology, National Institute of Mental Health, Bethesda, MD, USA |
| |
Abstract: | BackgroundThere is not much information on established standard therapy for patients with severe methionine adenosyltransferase (MAT) I/III deficiency.Case presentationWe 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.ConclusionsAlthough 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. |
| |
Keywords: | MAT methionine adenosyltransferase AdoMet S-adenosylmethionine CBS cystathionine β-synthase tHcy total homocysteine CNS central nervous system AST aspartate aminotransferase ALT alanine aminotransferase KSPD Kyoto Scale of Psychological Development MRI magnetic resonance imaging DNA deoxyribonucleic acid PCR polymerase chain reaction NH3 ammonia DQ developmental quotient ND not detectable |
本文献已被 ScienceDirect 等数据库收录! |
|