MCID: BTR002
MIFTS: 38

Beta-Ureidopropionase Deficiency malady

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

Summaries for Beta-Ureidopropionase Deficiency

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OMIM:46 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 5-fluorouracil toxicity, 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:22 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:
21GeneTests, 23GTR, 22Genetics Home Reference, 46OMIM, 48Orphanet, 61UMLS, 27ICD10 via Orphanet, 62UMLS via Orphanet
See all sources

Beta-Ureidopropionase Deficiency, Aliases & Descriptions:

Name: Beta-Ureidopropionase Deficiency 21 23 22 46 48
Deficiency of Beta-Ureidopropionase 22 61
 
Beta-Alanine Synthase Deficiency 22 48


Classifications:



Characteristics (Orphanet epidemiological data):

48
beta-ureidopropionase deficiency:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


External Ids:

OMIM46 613161
ICD10 via Orphanet27 E79.8
UMLS via Orphanet62 C1291512

Related Diseases for Beta-Ureidopropionase Deficiency

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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 toxicity10.2DPYD
3dihydropyrimidine dehydrogenase deficiency9.8DPYS, DPYD

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 Deficiency21 UPB1
2 Deficiency of Beta-Ureidopropionase23

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:

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

Clinvar genetic disease variations for Beta-Ureidopropionase Deficiency:

7
id Gene Name 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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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

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Pathways related to Beta-Ureidopropionase Deficiency according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
8.5DPYD, UPB1, DPYS
2
Show member pathways
UTP and CTP dephosphorylation II37
ATP ITP metabolism59
purine deoxyribonucleosides salvage37
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 degradation37
pyrimidine deoxyribonucleosides degradation37
uracil degradation I (reductive)37
pyrimidine ribonucleosides degradation37
8.5UPB1, DPYS, DPYD
78.5DPYS, UPB1, DPYD
8
Show member pathways
phenylethylamine degradation I37
8.5UPB1, DPYD, DPYS
9
Show member pathways
purine deoxyribonucleosides degradation37
purine nucleotides degradation37
adenine and adenosine salvage II37
adenine and adenosine salvage III37
oxidized GTP and dGTP detoxification37
urate biosynthesis/inosine 5-phosphate degradation37
adenine and adenosine salvage I37
purine ribonucleosides degradation to ribose-1-phosphate37
inosine-5-phosphate biosynthesis37
guanosine nucleotides degradation37
guanine and guanosine salvage37
adenosine nucleotides degradation37
5-aminoimidazole ribonucleotide biosynthesis37
8.5UPB1, DPYD, DPYS

Compounds for genes affiliated with Beta-Ureidopropionase Deficiency

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Sources:
44Novoseek, 60Tocris Bioscience, 29IUPHAR, 25HMDB, 12DrugBank
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Compounds related to Beta-Ureidopropionase Deficiency according to GeneCards/GeneDecks:

(show all 15)
idCompoundScoreTop Affiliating Genes
1beta-aminoisobutyric acid449.6DPYD, UPB1
2beta-alanine44 60 29 25 1213.4UPB1, DPYD
3Dihydrothymine259.4DPYD, DPYS
45,6-dihydrothymine449.4DPYS, DPYD
5Ureidoisobutyric acid259.3DPYS, UPB1
6dihydrouracil44 2510.3DPYD, DPYS
7molybdenum44 2510.3DPYS, DPYD
8Ureidopropionic acid259.2UPB1, DPYS
9purine nucleoside449.2DPYS, DPYD
10thymine44 2510.1DPYD, DPYS
11Water259.0UPB1, DPYS
125fluorouracil449.0DPYS, DPYD
13thymidine44 259.8DPYS, DPYD
14pyrimidine44 259.8UPB1, DPYS, DPYD
15purine44 259.7DPYD, 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/GeneDecks:

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

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1beta-alanine biosynthetic processGO:0194839.4DPYD, UPB1
2uracil catabolic processGO:0062129.1DPYD, DPYS
3thymine catabolic processGO:0062109.0DPYS, DPYD
4pyrimidine nucleobase catabolic processGO:0062088.8DPYS, DPYD
5pyrimidine nucleoside catabolic processGO:0461358.7UPB1, DPYS, DPYD
6pyrimidine nucleobase metabolic processGO:0062068.7DPYD, DPYS, UPB1
7nucleobase-containing small molecule metabolic processGO:0550868.6UPB1, DPYS, DPYD
8small molecule metabolic processGO:0442818.5UPB1, DPYS, DPYD

Products for genes affiliated with Beta-Ureidopropionase Deficiency

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Sources for Beta-Ureidopropionase Deficiency

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet