Beta-ureidopropionase deficiency

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;

Détails

Origin ID

613161;

UMLS CUI

C1291512;

Currated CISMeF NLP mapping
- Beta-Ureidopropionase deficiency [MeSH concept]
- Beta-Ureidopropionase deficiency [MeSH Supplementary Concept]
- Beta-ureidopropionase deficiency [ICD-11 More detail]
- Beta-ureidopropionase deficiency [ORDO Disease]
- Deficiency of beta-ureidopropionase (disorder) [SNOMED CT concept]
- betaureidopropionase deficiency [Disease (Nov.)]
Genes related to phenotype
- Beta-ureidopropionase [OMIM gene]
HPO term(s)
- Anal atresia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bifid scrotum [HPO term]
- Bladder exstrophy [HPO term]
- Delayed CNS myelination [HPO term]
- Dystonia [HPO term]
- Global developmental delay [HPO term]
- Hypsarrhythmia [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- Microcephaly [HPO term]
- Neonatal hypotonia [HPO term]
- Neurological speech impairment [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
- Status epilepticus [HPO term]
ORDO concept(s)
- Beta-ureidopropionase deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Beta-Ureidopropionase deficiency [MeSH Supplementary Concept]
- Beta-Ureidopropionase deficiency [MeSH concept]
- Beta-ureidopropionase deficiency [ORDO Disease]
- Beta-ureidopropionase deficiency [ICD-11 More detail]
- Deficiency of beta-ureidopropionase (disorder) [SNOMED CT concept]
- betaureidopropionase deficiency [Disease (Nov.)]

Position du mot-clé dans l'(les) arborescence(s) :

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