MCID: BTR002
MIFTS: 34

Beta-Ureidopropionase Deficiency malady

Genetic diseases, Neuronal diseases, Metabolic diseases, Rare diseases categories

Summaries for Beta-Ureidopropionase Deficiency

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OMIM:45 Beta-ureidopropionase deficiency is a very rare autosomal recessive inborn error of metabolism due to a defect in... (613161) more...

MalaCards based summary: Beta-Ureidopropionase Deficiency, also known as deficiency of beta-ureidopropionase, is related to status epilepticus and dihydropyrimidine dehydrogenase deficiency, and has symptoms including intellectual disability, bifid scrotum and microcephaly. An important gene associated with Beta-Ureidopropionase Deficiency is UPB1 (ureidopropionase, beta), and among its related pathways are Glucuronidation and Purine metabolism. The compounds beta-aminoisobutyric acid and beta-alanine have been mentioned in the context of this disorder.

Genetics Home Reference:21 Beta-ureidopropionase deficiency is a disorder that causes excessive amounts of molecules called N-carbamyl-beta-aminoisobutyric acid and N-carbamyl-beta-alanine to be released in the urine. Neurological problems ranging from mild to severe also occur in some affected individuals.

Aliases & Classifications for Beta-Ureidopropionase Deficiency

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Sources:
45OMIM, 10diseasecard, 20GeneTests, 21Genetics Home Reference, 47Orphanet, 22GTR, 60UMLS, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Beta-Ureidopropionase Deficiency, Aliases & Descriptions:

Name: Beta-Ureidopropionase Deficiency 45 10 21 47 60
Deficiency of Beta-Ureidopropionase 21 22
 
Beta-Alanine Synthase Deficiency 21 47
Beta-Ureidopropionase 10 20


Classifications:



Characteristics (Orphanet epidemiological data):

47
beta-ureidopropionase deficiency:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal


External Ids:

OMIM45 613161
Orphanet47 65287
ICD10 via Orphanet26 E79.8
UMLS via Orphanet61 C1291512

Related Diseases for Beta-Ureidopropionase Deficiency

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Diseases related to Beta-Ureidopropionase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1status epilepticus10.3
2dihydropyrimidine dehydrogenase deficiency10.2DPYD

Symptoms for Beta-Ureidopropionase Deficiency

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Symptoms by clinical synopsis from OMIM:

613161

Clinical features from OMIM:

613161

HPO human phenotypes related to Beta-Ureidopropionase Deficiency:

(show all 14)
id Description Frequency HPO Source Accession
1 intellectual disability 2% HP:0001249
2 bifid scrotum very rare (1%) HP:0000048
3 microcephaly very rare (1%) HP:0000252
4 anal atresia very rare (1%) HP:0002023
5 status epilepticus very rare (1%) HP:0002133
6 hypsarrhythmia very rare (1%) HP:0002521
7 scoliosis very rare (1%) HP:0002650
8 autosomal recessive inheritance HP:0000007
9 neonatal hypotonia HP:0001319
10 dystonia HP:0001332
11 neurological speech impairment HP:0002167
12 delayed cns myelination HP:0002188
13 bladder exstrophy HP:0002836
14 infantile onset HP:0003593

Drugs & Therapeutics for Beta-Ureidopropionase Deficiency

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Drug clinical trials:

Search ClinicalTrials for Beta-Ureidopropionase Deficiency

Search NIH Clinical Center for Beta-Ureidopropionase Deficiency

Genetic Tests for Beta-Ureidopropionase Deficiency

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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

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Animal Models for Beta-Ureidopropionase Deficiency or affiliated genes

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Publications for Beta-Ureidopropionase Deficiency

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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

Variations for Beta-Ureidopropionase Deficiency

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UniProtKB/Swiss-Prot genetic disease variations for Beta-Ureidopropionase Deficiency:

62
id Symbol AA change Variation ID SNP ID
1UPB1p.Ala85GluVAR_026752rs34035085

Clinvar genetic disease variations for Beta-Ureidopropionase Deficiency:

6
id Gene Variation Type Significance SNP ID Assembly Location
1UPB1UPB1, IVS1, A-G, -2single nucleotide variantPathogenic
2UPB1UPB1, IVS8, G-A, -1single nucleotide variantPathogenic
3UPB1NM_016327.2(UPB1): c.254C> A (p.Ala85Glu)single nucleotide variantPathogenicrs34035085GRCh37Chr 22, 24896224: 24896224
4UPB1NM_016327.2(UPB1): c.209G> C (p.Arg70Pro)single nucleotide variantPathogenicrs121908066GRCh37Chr 22, 24896179: 24896179

Expression for genes affiliated with Beta-Ureidopropionase Deficiency

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

Pathways for genes affiliated with Beta-Ureidopropionase Deficiency

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Pathways related to Beta-Ureidopropionase Deficiency according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
8.5DPYD, UPB1, DPYS
2
Show member pathways
UTP and CTP dephosphorylation II36
ATP ITP metabolism58
purine deoxyribonucleosides salvage36
8.5DPYD, DPYS, UPB1
3
Show member pathways
8.5DPYS, DPYD, UPB1
4
Show member pathways
8.5UPB1, DPYS, DPYD
5
Show member pathways
8.5DPYD, DPYS, UPB1
6
Show member pathways
thymine degradation36
pyrimidine deoxyribonucleosides degradation36
uracil degradation I (reductive)36
pyrimidine ribonucleosides degradation36
8.5UPB1, DPYS, DPYD
78.5DPYS, UPB1, DPYD
8
Show member pathways
phenylethylamine degradation I36
8.5UPB1, DPYD, DPYS
9
Show member pathways
purine deoxyribonucleosides degradation36
purine nucleotides degradation36
adenine and adenosine salvage II36
adenine and adenosine salvage III36
oxidized GTP and dGTP detoxification36
urate biosynthesis/inosine 5-phosphate degradation36
adenine and adenosine salvage I36
purine ribonucleosides degradation to ribose-1-phosphate36
inosine-5-phosphate biosynthesis36
guanosine nucleotides degradation36
guanine and guanosine salvage36
adenosine nucleotides degradation36
5-aminoimidazole ribonucleotide biosynthesis36
8.5UPB1, DPYD, DPYS

Compounds for genes affiliated with Beta-Ureidopropionase Deficiency

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Sources:
43Novoseek, 59Tocris Bioscience, 28IUPHAR, 24HMDB, 12DrugBank
See all sources

Compounds related to Beta-Ureidopropionase Deficiency according to GeneCards Suite gene sharing:

(show all 15)
idCompoundScoreTop Affiliating Genes
1beta-aminoisobutyric acid439.6DPYD, UPB1
2beta-alanine43 59 28 24 1213.4UPB1, DPYD
3Dihydrothymine249.4DPYD, DPYS
45,6-dihydrothymine439.4DPYS, DPYD
5Ureidoisobutyric acid249.3DPYS, UPB1
6dihydrouracil43 2410.3DPYD, DPYS
7molybdenum43 2410.3DPYS, DPYD
8Ureidopropionic acid249.2UPB1, DPYS
9purine nucleoside439.2DPYS, DPYD
10thymine43 2410.1DPYD, DPYS
11Water249.0UPB1, DPYS
125fluorouracil439.0DPYS, DPYD
13thymidine43 249.8DPYS, DPYD
14pyrimidine43 249.8UPB1, DPYS, DPYD
15purine43 249.7DPYD, DPYS, UPB1

GO Terms for genes affiliated with Beta-Ureidopropionase Deficiency

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Cellular components related to Beta-Ureidopropionase Deficiency according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cytosolGO:00058298.5UPB1, DPYS, DPYD

Biological processes related to Beta-Ureidopropionase Deficiency according to GeneCards Suite gene sharing:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1beta-alanine biosynthetic processGO:00194839.4UPB1, DPYD
2uracil catabolic processGO:00062129.1DPYS, DPYD
3thymine catabolic processGO:00062109.0DPYD, DPYS
4pyrimidine nucleobase catabolic processGO:00062088.8DPYD, DPYS
5pyrimidine nucleoside catabolic processGO:00461358.7DPYD, DPYS, UPB1
6pyrimidine nucleobase metabolic processGO:00062068.7UPB1, DPYS, DPYD
7nucleobase-containing small molecule metabolic processGO:00550868.6DPYS, UPB1, DPYD
8small molecule metabolic processGO:00442818.5UPB1, DPYS, DPYD

Products for genes affiliated with Beta-Ureidopropionase Deficiency

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  • Antibodies
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  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Beta-Ureidopropionase Deficiency

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet