Term Name: 2-aminoadipic 2-oxoadipic aciduria
Synonyms: alpha-aminoadipic aciduria, AMOXAD
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.
Ontology: Human Disease [DOID:0111453]   ( DOID:0111453 )

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