Human genes for 2-aminoadipic 2-oxoadipic aciduria
2-aminoadipic 2-oxoadipic aciduria [DOID:0111453]
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 DHTKD1 on chromosome 10p14.
Synonyms: 2-aminoadipic 2-oxoadipic aciduria, 2aminoadipic 2oxoadipic aciduria, DOID:0111453, AMOXAD, alpha-aminoadipic aciduria ...