So... we finally have a probably culprit for Cyrus' seizures. Turns out that he has a freakishly rare genetic disorder called Adenylosuccinate Lyase Deficiency, which means he doesn't make an enzyme that needed to make nucleotides (for DNA replication and transcription). Needless to say, it's important stuff and it will affect him both intellectually and physically.
Emotionally, it's been a rough week, but it's hard to stay angry or depressed at the world when looking at this face!! Because he has been taking the news rather well - he's been smiling and giggling all week long! He's just that awesome!
In physiology, lyase is an enzyme catalytically aiding in breaking various chemical bonds by means of an "elimination" reaction, other than hydrolysis and oxidation. This reaction often results in the formation of a new cyclic structure or a new double bond, and a reverse reaction called a "Michael addition" might also possibly happen under the catalysis of lyase. To obtain either a double bond or a new ring, lyase introduction
ReplyDeleteThanks for the information and resources. I've tried to learn a lot about this specific metabolic pathway, and well, it's not totally well understood. I've been told my a few neurologists that it requires a post doc after a post doc.
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