Fumarase Deficiency: Things I've learned...
Fumarase Deficient people...
... may not be able to convert Fumaric Acid into Malic Acid which can lead to lowered amounts of energy which can result in severe physical and mental disabilities.
... may have reduced Levels of consciousness (sedation/somnolence)
... may have Microcephaly (Small Head) and/or Micrencephaly (Small Brain)
(To the right is a picture of a woman from Pakistan with Micrencephaly)
... may suffer from seizures
... may have raised levels of Ammonia in their blood (Hyperammonaemia)
Fumarase Deficient people...
... may not be able to convert Fumaric Acid into Malic Acid which can lead to lowered amounts of energy which can result in severe physical and mental disabilities.
... may have reduced Levels of consciousness (sedation/somnolence)
... may have Microcephaly (Small Head) and/or Micrencephaly (Small Brain)
(To the right is a picture of a woman from Pakistan with Micrencephaly)
... may suffer from seizures
... may have raised levels of Ammonia in their blood (Hyperammonaemia)
... may suffer from decreased muscle tone aka, hypotonia (from Medline Plus) (Photo right)
Fumarate hydratase, or fumarase, is an enzymatic component of the tricarboxylic acid, or Krebs cycle. It catalyzes the conversion of fumarate to malate OMIM (John's Hopkins University).
Fumarase deficiency (<- You will have to figure out this part yourself.)
Interesting Photo from the collection at Syracuse University (that I can't post without paying a fee.
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ReplyDeleteThanks for this useful post. Here is some additional information about the "genetics" of this condition that was written by our Genetic Counselor and other genetic professionals: http://www.accessdna.com/condition/Fumarase_Deficiency/156. Thanks, AccessDNA
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