Term Name: | 2-aminoadipic 2-oxoadipic aciduria |
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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 ) |