New disorder of the methionine cycle

Posted by & filed under Part 08: AMINO ACIDS.

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 Döbeln 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. 2011 Sep 28. PubMed PMID:21963049.

Phenotype is developmental delay and liver dysfunction. Increased plasma levels of methionine, AdoMet, and AdoHcy. Normal or mildly elevated homocysteine (Hcy) levels indicates a block in the methionine cycle.
For more info on Disorders of Transsulfuration, check out the OMMBID abstract here:

Posted by Philippe Campeau, MD

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