2-aminoadipic 2-oxoadipic aciduria (DOID:0111453)
Alliance: disease page
Synonyms: alpha-aminoadipic aciduria; AMOXAD
Alt IDs: OMIM:204750, ORDO:79154
Definition: An amino acid metabolic disorder characterized by defects in L-lysine degradation resulting in variable neurological symptoms but in many cases patients are asymptomatic that has_material_basis_in homozygous or compound heterozygous mutation in the DHTKD1 gene on chromosome 10p14.