|8 month-old baby Bertrand.|
Extreme cuteness may also be a symptom.
A potential N-glycanase enzyme treatment has been identified.
I need help finding undiagnosed kids fitting this profile. Matching kids may be eligible to receive a test for this newly discovered genetic (NGLY1) disorder.
The salient features are:
- Developmental delays
- Involuntary movements starting in infancy
- Liver dysfunction detected in infancy- elevated transminases and AFP, all normalized at this time
- Myoclonic seizures starting in infancy
- Lack of tears
The presentation of kids with NGLY1 mutations may vary with severity. Both Bertrand's mutations are located toward the end of the gene, so he may actually be one of the less affected.
Thanks for any help you can provide!