H00184 | |
H number | H00184 |
Name | Hypermethioninemia |
Description | Hypermethioninemia is an inborn error of methionine metabolism. |
Category | Inherited metabolic disorder |
Network | nt06030 Methionine metabolism |
Gene | MAT1A [HSA:4143] [KO:K00789] AHCY [HSA:191] [KO:K01251] GNMT [HSA:27232] [KO:K00552] ADK [HSA:132] [KO:K00856] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | ICD-11: 5C50.B ICD-10: E72.1 MeSH: C564683 OMIM: 250850 613752 606664 614300 |
Reference | PMID:11145114 AUTHORS Mudd SH, Jenden DJ, Capdevila A, Roch M, Levy HL, Wagner C TITLE Isolated hypermethioninemia: measurements of S-adenosylmethionine and choline. JOURNAL Metabolism 49:1542-7 (2000) DOI:10.1053/meta.2000.18521 PMID:21308989 AUTHORS Mudd SH TITLE Hypermethioninemias of genetic and non-genetic origin: A review. JOURNAL Am J Med Genet C Semin Med Genet 157:3-32 (2011) DOI:10.1002/ajmg.c.30293 PMID:9612070 AUTHORS Nagao M TITLE [Molecular pathology and DNA diagnosis of phenylketonuria and hypermethioninemia]. JOURNAL Tanpakushitsu Kakusan Koso 43:762-9 (1998) PMID:7560086 (MAT1A) AUTHORS Ubagai T, Lei KJ, Huang S, Mudd SH, Levy HL, Chou JY TITLE Molecular mechanisms of an inborn error of methionine pathway. Methionine adenosyltransferase deficiency. JOURNAL J Clin Invest 96:1943-7 (1995) DOI:10.1172/JCI118240 PMID:15024124 (AHCY) AUTHORS 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 TITLE S-adenosylhomocysteine hydrolase deficiency in a human: a genetic disorder of methionine metabolism. JOURNAL Proc Natl Acad Sci U S A 101:4234-9 (2004) DOI:10.1073/pnas.0400658101 PMID:11810299 (GNMT) AUTHORS Luka Z, Cerone R, Phillips JA 3rd, Mudd HS, Wagner C TITLE Mutations in human glycine N-methyltransferase give insights into its role in methionine metabolism. JOURNAL Hum Genet 110:68-74 (2002) DOI:10.1007/s00439-001-0648-4 PMID:21963049 (ADK) AUTHORS 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 TITLE Adenosine kinase deficiency disrupts the methionine cycle and causes hypermethioninemia, encephalopathy, and abnormal liver function. JOURNAL Am J Hum Genet 89:507-15 (2011) DOI:10.1016/j.ajhg.2011.09.004 |