Alpha-aminoadipic and alpha-ketoadipic aciduria

{{merge from|2-Aminoadipic-2-oxoadipic aciduria|discuss=Talk:Alpha-aminoadipic and alpha-ketoadipic aciduria#Merge proposal|date=July 2025}}

{{Infobox medical condition

|name =

|synonym =

|image = Autosomal recessive - en.svg

|image_size =

|alt =

|caption = Alpha-aminoadipic and alpha-ketoadipic aciduria is an autosomal recessive disorder.

|pronounce =

|specialty = Endocrinology

|symptoms =

|complications =

|onset =

|duration =

|types =

|causes = Mutations in DHTKD1

|risks =

|diagnosis =

|differential =

|prevention =

|treatment =

|medication =

|prognosis =

|frequency =

|deaths =

}}

Alpha-aminoadipic and alpha-ketoadipic aciduria is an autosomal recessive metabolic disorder characterized by an increased urinary excretion of alpha-ketoadipic acid and alpha-aminoadipic acid. It is caused by mutations in DHTKD1, which encodes the E1 subunit of the oxoglutarate dehydrogenase complex (alpha-ketoglutarate dehydrogenase complex).{{Cite journal |vauthors=Danhauser K, Sauer SW, Haack TB, Wieland T, Staufner C, Graf E, Zschocke J, Strom TM, Traub T, Okun JG, Meitinger T, Hoffmann GF, Prokisch H, Kölker S |date=Dec 2012 |title=DHTKD1 mutations cause 2-aminoadipic and 2-oxoadipic aciduria |journal=American Journal of Human Genetics |volume=91 |issue=6 |pages=1082–7 |doi=10.1016/j.ajhg.2012.10.006 |pmc=3516599 |pmid=23141293}}