U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

2-oxoadipic aciduria

MedGen UID:
860375
•Concept ID:
C4011938
•
Finding
Synonym: Alpha-oxoadipic acid high in urine
 
HPO: HP:6000266

Definition

The amount of 2-oxoadipic acid in the urine, normaliyed for urine concentration, is above the upper limit of normal. [from HPO]

Recent clinical studies

Etiology

Heterozygous DHTKD1 Variants in Two European Cohorts of Amyotrophic Lateral Sclerosis Patients.
Osmanovic A, Gogol I, Martens H, Widjaja M, Müller K, Schreiber-Katz O, Feuerhake F, Langhans CD, Schmidt G, Andersen PM, Ludolph AC, Weishaupt JH, Brand F, Petri S, Weber RG
Genes (Basel) 2021 Dec 29;13(1) doi: 10.3390/genes13010084. PMID: 35052424Free PMC Article

Diagnosis

DHTKD1 mutations cause 2-aminoadipic and 2-oxoadipic aciduria.
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
Am J Hum Genet 2012 Dec 7;91(6):1082-7. Epub 2012 Nov 8 doi: 10.1016/j.ajhg.2012.10.006. PMID: 23141293Free PMC Article

Prognosis

Heterozygous DHTKD1 Variants in Two European Cohorts of Amyotrophic Lateral Sclerosis Patients.
Osmanovic A, Gogol I, Martens H, Widjaja M, Müller K, Schreiber-Katz O, Feuerhake F, Langhans CD, Schmidt G, Andersen PM, Ludolph AC, Weishaupt JH, Brand F, Petri S, Weber RG
Genes (Basel) 2021 Dec 29;13(1) doi: 10.3390/genes13010084. PMID: 35052424Free PMC Article

Clinical prediction guides

Heterozygous DHTKD1 Variants in Two European Cohorts of Amyotrophic Lateral Sclerosis Patients.
Osmanovic A, Gogol I, Martens H, Widjaja M, Müller K, Schreiber-Katz O, Feuerhake F, Langhans CD, Schmidt G, Andersen PM, Ludolph AC, Weishaupt JH, Brand F, Petri S, Weber RG
Genes (Basel) 2021 Dec 29;13(1) doi: 10.3390/genes13010084. PMID: 35052424Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Reviews

    Related information

    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...