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.
Using a URL that encodes these findings one can see the differential diagnosis for this case in the SimulConsult diagnostic decision support:
https://simulconsult.com/diagnose?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
The software suggests a high probability of Glutaric Aciduria type 1, even before any lab tests were done. Note that the onset ages of the various findings are specified, which is crucial in making the diagnosis because many different diagnoses share these findings:
The most recommended test is urine organic acids, in which glutaric acid is the most useful compound to check:
The “Explain Diagnosis” screen allows you to compare the patient’s findings to those in a disease (accessed by Disease on the top black navigation bar and choosing Explain). Here too you can see the importance of the onset age information, where onset at the indicated time is shown in black, while onset before that time is in orange and onset later is in purple.
By clicking on the blue arrowhead one can do the same analysis for other possible diagnoses in the differential diagnosis. For FOXG1-related neurodevelopmental disorder many of the same findings are found, but onset would have been earlier, as seen by the large amount of orange in the display.
It is difficult even for experts to have all this information in one’s head. Diagnostic software pools the wisdom of the community to make such information available in a just-in-time manner specific for one’s case, and makes the information computable to assist in diagnoses.