With so few patients evaluated so far, it is difficult to give a prognosis especially as the mechanism of harm is not yet fully understood.
From recent NIH research, we know that NGLY1 Deficiency patients appear to lose some functions with age (for example: peripheral neuropathy as well as auditory processing findings deteriorate). Some symptoms however appear to improve or remain stable over time such as the liver function values and the movement disorder.
Most children do not appear to be medically fragile, although some children have passed away at a young age due to severe liver disease, infections and/or seizure complications.
Children with NGLY1 Deficiency have a relative strength in social skills. They appear happy, interactive, and want to learn. They have great difficulty acquiring new skills across many areas and need aggressive Early Intervention services and school support.
Several patients can talk or communicate with speech-generating devices, may ambulate with the help of a gait-trainer, and a few are able to do simple reading and math.