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GTR Home > Conditions/Phenotypes > Deficiency of beta-ureidopropionase

Deficiency of beta-ureidopropionase

Synonyms
Beta-ureidopropionase deficiency
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

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). [from OMIM]

Available tests

15 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (15 available)

Biochemical Genetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BUP1, UPB1
    Summary: beta-ureidopropionase 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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