Term Name: 2-hydroxyglutaric aciduria
Synonyms:
Definition: An amino acid metabolic disorder that is an autosomal recessive neurometabolic disorder characterized by the significant elevation of urinary levels of hydroxyglutaric acid causing progressive brain damage.
Ontology: Human Disease [DOID:0050573]   ( DOID:0050573 )

Relationships
is a type of: amino acid metabolic disorder
has subtype: combined D-2- and L-2-hydroxyglutaric aciduria D-2-hydroxyglutaric aciduria L-2-hydroxyglutaric aciduria