Term Name: congenital glutamine deficiency
Synonyms: congenital systemic glutamine synthase deficiency, GLND
Definition: 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.
Ontology: Human Disease [DOID:0070544]   ( DOID:0070544 )

Relationships
is a type of: amino acid metabolic disorder autosomal recessive disease