MCID: BTR002
MIFTS: 39

Beta-Ureidopropionase Deficiency malady

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

Summaries for Beta-Ureidopropionase Deficiency

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OMIM:47 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:23 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:
47OMIM, 11diseasecard, 22GeneTests, 23Genetics Home Reference, 49Orphanet, 24GTR, 62UMLS, 28ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Beta-Ureidopropionase Deficiency, Aliases & Descriptions:

Name: Beta-Ureidopropionase Deficiency 47 11 23 49
Deficiency of Beta-Ureidopropionase 23 24 62
 
Beta-Alanine Synthase Deficiency 23 49
Beta-Ureidopropionase 11 22


Classifications:



Characteristics (Orphanet epidemiological data):

49
beta-ureidopropionase deficiency:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal


External Ids:

OMIM47 613161
Orphanet49 65287
ICD10 via Orphanet28 E79.8
UMLS via Orphanet63 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
2dihydropyrimidine dehydrogenase deficiency10.0DPYD

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 Deficiency22 UPB1
2 Deficiency of Beta-Ureidopropionase24

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:

64
id Symbol AA change Variation ID SNP ID
1UPB1p.Ala85GluVAR_026752rs34035085

Clinvar genetic disease variations for Beta-Ureidopropionase Deficiency:

7
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/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 II38
ATP ITP metabolism60
purine deoxyribonucleosides salvage38
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 degradation38
pyrimidine deoxyribonucleosides degradation38
uracil degradation I (reductive)38
pyrimidine ribonucleosides degradation38
8.5UPB1, DPYS, DPYD
78.5DPYS, UPB1, DPYD
8
Show member pathways
phenylethylamine degradation I38
8.5UPB1, DPYD, DPYS
9
Show member pathways
purine deoxyribonucleosides degradation38
purine nucleotides degradation38
adenine and adenosine salvage II38
adenine and adenosine salvage III38
oxidized GTP and dGTP detoxification38
urate biosynthesis/inosine 5-phosphate degradation38
adenine and adenosine salvage I38
purine ribonucleosides degradation to ribose-1-phosphate38
inosine-5-phosphate biosynthesis38
guanosine nucleotides degradation38
guanine and guanosine salvage38
adenosine nucleotides degradation38
5-aminoimidazole ribonucleotide biosynthesis38
8.5UPB1, DPYD, DPYS

Compounds for genes affiliated with Beta-Ureidopropionase Deficiency

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Sources:
45Novoseek, 61Tocris Bioscience, 30IUPHAR, 26HMDB, 13DrugBank
See all sources

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

(show all 15)
idCompoundScoreTop Affiliating Genes
1beta-aminoisobutyric acid459.6DPYD, UPB1
2beta-alanine45 61 30 26 1313.4UPB1, DPYD
3Dihydrothymine269.4DPYD, DPYS
45,6-dihydrothymine459.4DPYS, DPYD
5Ureidoisobutyric acid269.3DPYS, UPB1
6dihydrouracil45 2610.3DPYD, DPYS
7molybdenum45 2610.3DPYS, DPYD
8Ureidopropionic acid269.2UPB1, DPYS
9purine nucleoside459.2DPYS, DPYD
10thymine45 2610.1DPYD, DPYS
11Water269.0UPB1, DPYS
125fluorouracil459.0DPYS, DPYD
13thymidine45 269.8DPYS, DPYD
14pyrimidine45 269.8UPB1, DPYS, DPYD
15purine45 269.7DPYD, 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:00058298.5UPB1, DPYS, DPYD

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1beta-alanine biosynthetic processGO: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
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Beta-Ureidopropionase Deficiency

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet