Lysinuric protein intolerance

[merylg]

https://rarediseases.info.nih.gov/diseases/3335/lysinuric-protein-intolerance

https://ghr.nlm.nih.gov/condition/lysinuric-protein-intolerance

I just wanted to start a discussion on this inborn error of metabolism.

 

[wastwater]

It says it’s SLC7A7 https://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC7A7
I’m looking at SLC13A3 and can’t decide if this is my risk factor for M.E or a separate condition
https://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC13A3
Plus hyperammonia
https://www.picmonic.com/pathways/m...2/enzyme-deficiencies-1132/hyperammonemia_130

Succinic acid Is mentioned

 

[wastwater]

Are these classed as inborn errors of metabolism or mitochondrial disorders
Is high or low glutamate a feature

n-carbamyglutamate (carglumic acid) as treatment