Learning to use

Glutaric Aciduria Type 1

A parent’s account on the International Organization of Glutaric Acidemia web site told the story of A.  She was fine until 7 months of age:

Then she got an ear infection, and in the middle of the night she had a seizure, at which point we took her to the hospital. That was the last time she could sit. From there on she lost all her milestones (head control, motor skills), holding her bottle, and swallowing, and lost weight and declined in every way. The spasticity and dystonia took over her body, and rule every aspect of her life today.

Loading the computable patient summary string:

d=2556 &u=f0&o=499999 &u=f158&o=499999 &u=f1&o=269 &u=segal_020917182850&o=129 &u=f243&o=269 &u=c0036572&o=269 &u=f17&o=729 &u=f247&o=729 &u=f270&o=729 &i=1 &t=c

allows you to see the result in SimulConsult Diagnostic Decision Support with all the findings combined together. The software suggests a high probability of Glutaric Aciduria type 1, even before any lab tests were done.