KEGG   VARIANT: 132v1
Entry
132v1                      Variant                                 
Name
ADK deficiency
Gene
ADK  adenosine kinase [KO:K00856]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 102750
Network
nt06030  Methionine metabolism
Disease
H00184  Hypermethioninemia
Reference
  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
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