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== Disease == | == Disease == | ||
[[http://www.uniprot.org/uniprot/MCEE_HUMAN MCEE_HUMAN]] Vitamin B12-unresponsive methylmalonic acidemia. Methylmalonyl-CoA epimerase deficiency (MCEED) [MIM:[http://omim.org/entry/251120 251120]]: Autosomal recessive inborn error of amino acid metabolism, involving valine, threonine, isoleucine and methionine. This organic aciduria may present in the neonatal period with life-threatening metabolic acidosis, hyperammonemia, feeding difficulties, pancytopenia and coma. Note=The disease is caused by mutations affecting the gene represented in this entry.<ref>PMID:16752391</ref> | [[http://www.uniprot.org/uniprot/MCEE_HUMAN MCEE_HUMAN]] Vitamin B12-unresponsive methylmalonic acidemia. Methylmalonyl-CoA epimerase deficiency (MCEED) [MIM:[http://omim.org/entry/251120 251120]]: Autosomal recessive inborn error of amino acid metabolism, involving valine, threonine, isoleucine and methionine. This organic aciduria may present in the neonatal period with life-threatening metabolic acidosis, hyperammonemia, feeding difficulties, pancytopenia and coma. Note=The disease is caused by mutations affecting the gene represented in this entry.<ref>PMID:16752391</ref> | ||
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== References == | == References == | ||
<references/> | <references/> | ||
Revision as of 07:48, 25 December 2014
Crystal structure of human Methylmalonyl-CoA epimerase, MCEE
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