You are using an outdated browser. Please upgrade your browser to improve your experience.

2-aminoadipic 2-oxoadipic aciduria

Disease Summary
Associated Targets (1)
Tbio

1


Uniprot Description A metabolic disorder characterized by increased levels of 2-oxoadipate and 2-hydroxyadipate in the urine, and elevated 2-aminoadipate in the plasma. Patients can have mild to severe intellectual disability, muscular hypotonia, developmental delay, ataxia, and epilepsy. Most cases are asymptomatic.
Mondo Term and Equivalent IDs
MONDO:0008774:  2-aminoadipic 2-oxoadipic aciduria
DOID:0111453: 
Orphanet:79154: