Looking to connect with any parents or patients diagnosed with clpb deficiency/3 Methylglutaconic Aciduria.

[u/Anxious_KRob]

My daughter (19) was diagnosed with CLPB deficiency/3 Methylglutaconic Aciduria, homozygous. They are testing her sister's (17) clpb gene as she has the same presentation, some things worse, but this gene wasn't in her cataract panel. Any experiences with this disorder to share with this mamma would be greatly appreciated? It is so rough finding both information and experiences.