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2-hydroxyadipic aciduria

MedGen UID:
1842134
•Concept ID:
C5826412
•
Finding
Synonym: 2-hydroxyadipic acid high in urine
 
HPO: HP:0034465

Definition

The concentration of 2-hydroxyadipic acid 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  
  • CROGV2-hydroxyadipic aciduria

Conditions with this feature

2-aminoadipic 2-oxoadipic aciduria
MedGen UID:
395350
•Concept ID:
C1859817
•
Disease or Syndrome
Alpha-aminoadipic and alpha ketoadipic aciduria (AAKAD) is an inborn error of lysine, tryptophan, and hydroxylysine metabolism, which is manifested by the accumulation and excretion of 2-aminoadipic, 2-ketoadipic, and 2-hydroxyadipic acids.
See: Condition Record
2-aminoadipic 2-oxoadipic aciduria

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