" /> Beta-ureidopropionase deficiency - CISMeF





Preferred Label : Beta-ureidopropionase deficiency;

Symbol : UPB1D;

CISMeF acronym : UPB1D;

Type : Phenotype, molecular basis known;

Description : Beta-ureidopropionase deficiency is a very 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).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the beta-ureidopropionase gene (UPB1, 606673.0001);

Laboratory abnormalities : Increased urinary dihydropyrimidines; Increased urinary, plasma, and CSF N-carbamyl-beta-alanine; Increased urinary, plasma, and CSF N-carbamyl-beta-aminoisobutyric acid; Increased urinary, plasma, and CSF dihydrouracil; Increased urinary, plasma, and CSF dihydrothymine; Absence of beta-ureidopropionase activity and protein in liver biopsy;

Prefixed ID : #613161;

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29/07/2025


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