2-aminoadipic 2-oxoadipic aciduria

Term ID

DOID:0111453

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. https://www.ncbi.nlm.nih.gov/pubmed/23141293

References

• OMIM:204750
• ORDO:79154

Ontology

Human Disease   ( DOID:0111453 )