congenital glutamine deficiency

An amino acid metabolic disorder characterized by onset at birth of encephalopathy, lack of normal development, seizures, and hypotonia associated with variable brain abnormalities that has_material_basis_in homozygous mutation in the GLUL gene on chromosome 1

An amino acid metabolic disorder characterized by onset at birth of encephalopathy, lack of normal development, seizures, and hypotonia associated with variable brain abnormalities that has_material_basis_in homozygous mutation in the GLUL gene on chromosome 1q25.3.

Signs and symptoms

• Seizure
• Generalized hypotonia
• Brain atrophy
• Hypoglutaminemia
• Hyperammonemia
• Hypoplasia of the corpus callosum
• Bradycardia
• Lower limb hyperreflexia
• Severe global developmental delay
• Recurrent respiratory infections

Also known as: GLND; congenital systemic glutamine synthase deficiency