SimulConsult Cases Blog: Glutaric Aciduria type 1

Cases Blog: 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.

Click hyperlinked findings in the description above to see differential diagnoses for the individual finding using SimulConsult Neurological Syndromes. Click here to see the result in the software with all the findings combined together.

The software suggests a high probability of Glutaric Aciduria type 1, even before any lab tests were done.

The International Organization of Glutaric Acidemia has more family stories here.

Individual registration (free) or institutional access (free) is required to click into the software because access to the software is restricted for legal reasons to medical professionals and students.

If you know of interesting cases in the news, in journals or on open Web sites of hospitals or foundations, please contact us and include enough information for us to find the material. The differential diagnosis will change over time as people mull over the case and submit new information to the database about findings in the relevant diseases. Names are replaced by initials to conform with standard medical format for case presentations.