メチオニンアデノシルトランスフェラーゼ欠損症
アデノシルホモシステイン加水分解酵素欠損症
グリシン-N-メチルトランスフェラーゼ欠損症
アデノシンキナーゼ欠損症

Mudd SH, Jenden DJ, Capdevila A, Roch M, Levy HL, Wagner C

Isolated hypermethioninemia: measurements of S-adenosylmethionine and choline.

Metabolism 49:1542-7 (2000)
DOI:10.1053/meta.2000.18521

Mudd SH

Hypermethioninemias of genetic and non-genetic origin: A review.

Am J Med Genet C Semin Med Genet 157:3-32 (2011)
DOI:10.1002/ajmg.c.30293

Nagao M

[Molecular pathology and DNA diagnosis of phenylketonuria and hypermethioninemia].

Tanpakushitsu Kakusan Koso 43:762-9 (1998)

Ubagai T, Lei KJ, Huang S, Mudd SH, Levy HL, Chou JY

Molecular mechanisms of an inborn error of methionine pathway. Methionine adenosyltransferase deficiency.

J Clin Invest 96:1943-7 (1995)
DOI:10.1172/JCI118240

Baric I, Fumic K, Glenn B, Cuk M, Schulze A, Finkelstein JD, James SJ, Mejaski-Bosnjak V, Pazanin L, Pogribny IP, Rados M, Sarnavka V, Scukanec-Spoljar M, Allen RH, Stabler S, Uzelac L, Vugrek O, Wagner C, Zeisel S, Mudd SH

S-adenosylhomocysteine hydrolase deficiency in a human: a genetic disorder of methionine metabolism.

Proc Natl Acad Sci U S A 101:4234-9 (2004)
DOI:10.1073/pnas.0400658101

Luka Z, Cerone R, Phillips JA 3rd, Mudd HS, Wagner C

Mutations in human glycine N-methyltransferase give insights into its role in methionine metabolism.

Hum Genet 110:68-74 (2002)
DOI:10.1007/s00439-001-0648-4

Bjursell MK, Blom HJ, Cayuela JA, Engvall ML, Lesko N, Balasubramaniam S, Brandberg G, Halldin M, Falkenberg M, Jakobs C, Smith D, Struys E, von Dobeln U, Gustafsson CM, Lundeberg J, Wedell A

Adenosine kinase deficiency disrupts the methionine cycle and causes hypermethioninemia, encephalopathy, and abnormal liver function.

Am J Hum Genet 89:507-15 (2011)
DOI:10.1016/j.ajhg.2011.09.004