DWQA QuestionsCategory: QuestionsGA2 That Do Not Show the Normal Mutations
Paige Krizan asked 5 years ago
What about the infants/children that are positive for GA2 that do not show the normal mutations? How often is that seen? My daughter is that way she has none of the known mutations but has the severe form of GA2 since she was born. As well as does GA2 affect the nerves in the eyes? My daughter has abnormally small optic nerves that the optimologist hasn’t seen before, our metabolic team believes it may be related but they haven’t heard any others with that issue as well.

1 Answers
INFORM Physician answered 5 years ago
GA2 can be caused by mutations in a growing number of known genes (now at 7). So you should stay in touch with your metabolic program and obtain testing for new genes as they are discovered. Because the full spectrum of disease related to mutations in all of these genes is still unknown, it is also impossible to know if unusual features seen in a patient with GA2 are related to the GA2 itself, or is an unrelated problem. Therefor, it’s important to look for other causes of these unusual problems in case other therapies unrelated to GA2 might be helpful. Again your metabolic team should be able to assist in these studies. Hope this helps. Dr. Vockley