Glutamine deficiency syndrome
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Glutamine deficiency syndrome. Respiratory insufficiency, Hypotonia, Intractable seizures. Fully referenced neurology checklist.
Clinical features
- Respiratory insufficiency
- Hypotonia
- Intractable seizures
- Erythematous and necrolytic skin lesions
- Chronic encephalopathy
- Psychomotor impairment
- Mild hyperammonemia
Magnetic resonance imaging (MRI) brain: features
Locked: subscribe to see this section.
Amino acid analysis
Locked: subscribe to see this section.
Treatment
Locked: subscribe to see this section.
