U.S. flag

An official website of the United States government


Send to:

Choose Destination

Elevated urinary N-carbamyl-beta-aminoisobutyric acid level

MedGen UID:
Concept ID:
HPO: HP:6000623


The amount of N-carbamyl-beta-aminoisobutyric 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 N-carbamyl-beta-aminoisobutyric acid level

Conditions with this feature

Deficiency of beta-ureidopropionase
MedGen UID:
Concept ID:
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).

Recent clinical studies


Van Kuilenburg AB, Van Lenthe H, Assmann B, Göhlich-Ratmann G, Hoffmann GF, Bräutigam C, Wevers RA, Van Gennip AH
J Inherit Metab Dis 2001 Dec;24(7):725-32. doi: 10.1023/a:1012997406132. PMID: 11804209

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

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...