DISEASES

Disease-gene associations mined from literature

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 ...