glycine encephalopathy 2

A glycine encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the AMT gene, which encodes a member of the glycine cleavage system (protein T), on chromosome 3p21.

Signs and symptoms

• Increased CSF glycine concentration
• Seizure
• Mild global developmental delay
• Nonketotic hyperglycinemia
• EEG with burst suppression
• Respiratory failure
• Severe intellectual disability

Also known as: GCE2