Presentation
Psychiatrical
- Mood Swings
These precipitating factors can lead to a potentially fatal episode of acute decompensation with anorexia, nausea, vomiting, lethargy, ataxia (in infants/toddlers), cognitive impairment, sleep disturbances, hallucinations, hyperactivity, mood swings, [orpha.net]
Neurologic
- Sleep Disturbance
These precipitating factors can lead to a potentially fatal episode of acute decompensation with anorexia, nausea, vomiting, lethargy, ataxia (in infants/toddlers), cognitive impairment, sleep disturbances, hallucinations, hyperactivity, mood swings, [orpha.net]
If left untreated further symptoms may develop including nausea, anorexia, dystonia, ataxia, cognitive impairment, hallucinations, and sleep disturbances. [thinkgenetic.com]
- Stupor
[…] acute decompensation with anorexia, nausea, vomiting, lethargy, ataxia (in infants/toddlers), cognitive impairment, sleep disturbances, hallucinations, hyperactivity, mood swings, acute dystonia, and choreoathetosis (in adults), that can progress to stupor [orpha.net]
Workup
Serum
- Valine Increased
increased brain leucine produces or enhances brain edema). [newenglandconsortium.org]