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Elevated urinary ureidopropionic acid level

MedGen UID:
1053019
•Concept ID:
CN377365
•
Finding
Synonym: Ureidopropionic acid high in urine
 
HPO: HP:6000534

Definition

The amount of ureidopropionic 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  
  • CROGVElevated urinary ureidopropionic acid level

Conditions with this feature

Deficiency of beta-ureidopropionase
MedGen UID:
226944
•Concept ID:
C1291512
•
Disease or Syndrome
Beta-ureidopropionase deficiency is a rare autosomal recessive inborn error of metabolism due to a defect in pyrimidine degradation. Less than 10 patients have been reported, and the phenotype can range from severe neurologic involvement with mental retardation and seizures to normal neurologic development (Yaplito-Lee et al., 2008).
See: Condition Record
Deficiency of beta-ureidopropionase

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