MCID: BTR002
MIFTS: 28

Beta-Ureidopropionase Deficiency malady

Neuronal, Metabolic categories

Summaries for Beta-Ureidopropionase Deficiency

Sources:
47OMIM, 33MalaCards
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MalaCards: Beta-Ureidopropionase Deficiency, also known as deficiency of beta-ureidopropionase, is related to status epilepticus and 5-fluorouracil toxicity. An important gene associated with Beta-Ureidopropionase Deficiency is UPB1 (ureidopropionase, beta), and among its related pathways are thymine degradation and Glucuronidation. The compounds beta-aminoisobutyric acid and beta-alanine have been mentioned in the context of this disorder.

Description from OMIM:47 613161

Aliases & Classifications for Beta-Ureidopropionase Deficiency

Sources:
20GeneTests, 22GTR, 47OMIM, 49Orphanet, 61UMLS, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal, Metabolic


Characteristics (Orphanet epidemiological data):

49
beta-ureidopropionase deficiency:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

beta-ureidopropionase deficiency 20 22 47 49
deficiency of beta-ureidopropionase 61
beta-alanine synthase deficiency 49


External Ids:

OMIM47 613161
ICD10 via Orphanet26 E79.8
SNOMED-CT via Orphanet58 124511000
UMLS via Orphanet62 C1291512

Related Diseases for Beta-Ureidopropionase Deficiency

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Beta-Ureidopropionase Deficiency via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1status epilepticus10.3
25-fluorouracil toxicity10.0DPYD
3dihydropyrimidine dehydrogenase deficiency10.0DPYD, DPYS

Clinical Features for Beta-Ureidopropionase Deficiency

Sources:
47OMIM
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Clinical features from OMIM:

613161

Clinical synopsis from OMIM:

613161

Drugs & Therapeutics for Beta-Ureidopropionase Deficiency

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Beta-Ureidopropionase Deficiency

Drug clinical trials:

Search ClinicalTrials for Beta-Ureidopropionase Deficiency

Search NIH Clinical Center for Beta-Ureidopropionase Deficiency

Search CenterWatch for Beta-Ureidopropionase Deficiency

Genetic Tests for Beta-Ureidopropionase Deficiency

Sources:
20GeneTests, 22GTR
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Genetic tests related to Beta-Ureidopropionase Deficiency:

id Genetic test Affiliating Genes
1 Beta-ureidopropionase Deficiency20 UPB1
2 Deficiency Of Beta-ureidopropionase22

Anatomical Context for Beta-Ureidopropionase Deficiency

Animal Models for Beta-Ureidopropionase Deficiency or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Beta-Ureidopropionase Deficiency

Sources:
51PubMed
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Articles related to Beta-Ureidopropionase Deficiency:

idTitleAuthorsYear
1
Five cases of beta-ureidopropionase deficiency detected by GC/MS analysis of urine metabolome. (18853477)
2009
2
Beta-ureidopropionase deficiency presenting with congenital anomalies of the urogenital and colorectal systems. (17964839)
2008
3
Beta-ureidopropionase deficiency presenting with febrile status epilepticus. (16417553)
2006
4
Clinical findings and a therapeutic trial in the first patient with beta-ureidopropionase deficiency. (16541364)
2006
5
Genetic analysis of the first 4 patients with beta-ureidopropionase deficiency. (17065070)
2006
6
Beta-ureidopropionase deficiency: an inborn error of pyrimidine degradation associated with neurological abnormalities. (15385443)
2004
7
Screening and diagnosis of beta-ureidopropionase deficiency by gas chromatographic/mass spectrometric analysis of urine. (12271438)
2002
8
Detection of beta-ureidopropionase deficiency with HPLC-electrospray tandem mass spectrometry and confirmation of the defect at the enzyme level. (11804209)
2001
9
beta-Ureidopropionase deficiency: a novel inborn error of metabolism discovered using NMR spectroscopy on urine. (11675655)
2001
10
Confirmation of the enzyme defect in the first case of beta-ureidopropionase deficiency. Beta-alanine deficiency. (11783492)
2000

Genetic Variations for Beta-Ureidopropionase Deficiency

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Beta-Ureidopropionase Deficiency:

63
id Symbol AA change Variation SNP ID
1UPB1p.Ala85GluVAR_026752rs34035085

Expression for genes affiliated with Beta-Ureidopropionase Deficiency

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Beta-Ureidopropionase Deficiency

Search GEO for disease gene expression data for Beta-Ureidopropionase Deficiency.

Pathways for genes affiliated with Beta-Ureidopropionase Deficiency

Sources:
38NCBI BioSystems Database, 30KEGG, 50PharmGKB, 54Reactome, 12EMD Millipore
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Compounds for genes affiliated with Beta-Ureidopropionase Deficiency

Sources:
45Novoseek, 60Tocris Bioscience, 11DrugBank, 24HMDB
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Compounds related to Beta-Ureidopropionase Deficiency according to GeneCards/GeneDecks:

(show all 11)
idCompoundScoreTop Affiliating Genes
1beta-aminoisobutyric acid459.6DPYD, UPB1
2beta-alanine45 60 11 2412.4DPYD, UPB1
35,6-dihydrothymine459.3DPYS, DPYD
4dihydrouracil45 2410.3DPYD, DPYS
5molybdenum45 2410.2DPYS, DPYD
6purine nucleoside459.1DPYD, DPYS
7thymidine45 2410.1DPYD, DPYS
8thymine45 2410.0DPYS, DPYD
95fluorouracil458.8DPYD, DPYS
10pyrimidine45 249.7DPYD, DPYS, UPB1
11purine45 249.7DPYD, DPYS, UPB1

GO Terms for genes affiliated with Beta-Ureidopropionase Deficiency

Sources:
16Gene Ontology
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Cellular components related to Beta-Ureidopropionase Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytosolGO:0058298.5DPYD, DPYS, UPB1

Biological processes related to Beta-Ureidopropionase Deficiency according to GeneCards/GeneDecks:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1beta-alanine biosynthetic processGO:0194839.4UPB1, DPYD
2uracil catabolic processGO:0062129.2DPYS, DPYD
3thymine catabolic processGO:0062109.1DPYD, DPYS
4pyrimidine nucleobase catabolic processGO:0062088.8DPYS, DPYD
5pyrimidine nucleoside catabolic processGO:0461358.7UPB1, DPYS, DPYD
6pyrimidine nucleobase metabolic processGO:0062068.7DPYD, DPYS, UPB1
7small molecule metabolic processGO:0442818.5DPYD, DPYS, UPB1
8nucleobase-containing small molecule metabolic processGO:0550868.4DPYD, DPYS, UPB1

Products for genes affiliated with Beta-Ureidopropionase Deficiency

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Beta-Ureidopropionase Deficiency

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet