congenital glutamine deficiency

Term ID

DOID:0070544

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. https://pubmed.ncbi.nlm.nih.gov/21353613/

References

• GARD:9848
• MIM:610015
• ORDO:71278

Ontology

Human Disease   ( DOID:0070544 )