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Reduced hepatic beta-ureidopropionase activity

MedGen UID:
1054500
Concept ID:
CN376594
Finding
Synonym: Liver biopsy: beta-ureidopropionase activity low
 
HPO: HP:6000082

Definition

Activity of beta-ureidopropionase in the liver below the lower limit of normal. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVReduced hepatic beta-ureidopropionase activity

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).

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