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"Cristina and I each carried a different mutant NGLY1 gene."

NGLY1 is also the name of the enzyme.



Um, it's possible I am just stupid and I am still trying to look up info on this. But that doesn't help me adequately understand it.

This piece is interesting to me because I have a form of cystic fibrosis, which is a genetic disorder. Long QT waves -- the heart problem the child had from an antibiotic -- can be caused by a magnesium deficiency. Magnesium supplementation helps a lot of people with CF. Also, they mention a possible treatment for this condition that is currently used for some people with CF. So I am wondering how it relates to my condition, basically. But I have gotten well by framing the question different from the medical community and others with my condition.

In cystic fibrosis, the miscoded protein is the CFTR, which handles traffic into and out of the cell for certain specific molecules. Understanding which molecules are impacted was enormously useful info. People with CF are routinely put on digestive enzymes, which I no longer require. So I am trying to understand what is going on with this child in terms which make sense from my mental framework regarding my genetic disorder and "enzyme deficiency" doesn't sound to me like it is really the root problem (but maybe I am an idiot -- it would hardly be a first). That may not be possible to achieve but I will work on it anyway.

Thank you for replying.


Enzymes are proteins that function as catalysts. That seems to be the key bit you're missing.


Thanks. Someone has generously written me privately to give me a clue or three. This article, the blog, additional research...etc ...ate my day yesterday. As someone said to me recently: It made me think and that's always a good thing. I am off to examine my belly button and record my thoughts on the matter for my own edification.




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