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Elevated urinary 2-oxoisocaproic level

MedGen UID:
1053908
•Concept ID:
CN377431
•
Finding
HPO: HP:6000599

Definition

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

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVElevated urinary 2-oxoisocaproic level

Recent clinical studies

Clinical prediction guides

Studies of urinary organic acid profiles of a patient with dihydrolipoyl dehydrogenase deficiency.
Kuhara T, Shinka T, Inoue Y, Matsumoto M, Yoshino M, Sakaguchi Y, Matsumoto I
Clin Chim Acta 1983 Sep 30;133(2):133-40. doi: 10.1016/0009-8981(83)90398-4. PMID: 6688766

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