MCID: BTR002
MIFTS: 34

Beta-Ureidopropionase Deficiency malady

Categories: Genetic diseases, Neuronal diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Beta-Ureidopropionase Deficiency

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Aliases & Descriptions for Beta-Ureidopropionase Deficiency:

Name: Beta-Ureidopropionase Deficiency 50 23 24 52 68 12 66
Deficiency of Beta-Ureidopropionase 24 25
Beta-Alanine Synthase Deficiency 24 52
 
Beta-Ureidopropionase 12
Bupd 68

Characteristics:

Orphanet epidemiological data:

52
beta-ureidopropionase deficiency:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

HPO:

62
beta-ureidopropionase deficiency:
Inheritance: autosomal recessive inheritance
Onset and clinical course: infantile onset


Classifications:



External Ids:

OMIM50 613161
Orphanet52 ORPHA65287
ICD10 via Orphanet29 E79.8
UMLS via Orphanet67 C1291512
MedGen35 C1291512
MeSH37 D011686

Summaries for Beta-Ureidopropionase Deficiency

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UniProtKB/Swiss-Prot:68 Beta-ureidopropionase deficiency: An inborn error of metabolism due to a defect in pyrimidine degradation. It is characterized by muscular hypotonia, dystonic movements, scoliosis, microcephaly and severe developmental delay. Patients show strongly elevated levels of N-carbamyl-beta-alanine and N-carbamyl-beta-aminoisobutyric acid in plasma, cerebrospinal fluid and urine.

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 (Beta-Ureidopropionase 1), and among its related pathways are Porphyrin and chlorophyll metabolism and Pyrimidine metabolism (KEGG).

Genetics Home Reference:24 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.

OMIM:50 Beta-ureidopropionase deficiency is a very rare autosomal recessive inborn error of metabolism due to a defect in... (613161) more...

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 epilepticus10.1
2dihydropyrimidine dehydrogenase deficiency9.5DPYD, DPYS
3melanoma and neural system tumor syndrome9.2DPYD, DPYS
4focal dystonia8.9DPYD, DPYS, UPB1
5cataract 3, multiple types8.8DPYD, DPYS, UPB1

Graphical network of diseases related to Beta-Ureidopropionase Deficiency:



Diseases related to beta-ureidopropionase deficiency

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 12)
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 neonatal hypotonia HP:0001319
9 dystonia HP:0001332
10 neurological speech impairment HP:0002167
11 delayed cns myelination HP:0002188
12 bladder exstrophy HP:0002836

Drugs & Therapeutics for Beta-Ureidopropionase Deficiency

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Interventional clinical trials:

Search ClinicalTrials, 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 Deficiency of Beta-Ureidopropionase25
2 Beta-Ureidopropionase Deficiency23 UPB1

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:

68
id Symbol AA change Variation ID SNP ID
1UPB1p.Ala85GluVAR_026752rs34035085

Clinvar genetic disease variations for Beta-Ureidopropionase Deficiency:

5
id Gene Variation Type Significance SNP ID Assembly Location
1UPB1NM_016327.2(UPB1): c.105-2A> Gsingle nucleotide variantPathogenicrs138081800GRCh37Chr 22, 24896073: 24896073
2UPB1NM_016327.2(UPB1): c.917-2A> Gsingle nucleotide variantPathogenicrs876657373GRCh38Chr 22, 24523617: 24523617
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 pathwaysScoreTop Affiliating Genes
1
Show member pathways
8.5DPYD, DPYS, UPB1
2
Show member pathways
8.5DPYD, DPYS, UPB1
3
Show member pathways
8.5DPYD, DPYS, UPB1
4
Show member pathways
8.5DPYD, DPYS, UPB1
58.5DPYD, DPYS, UPB1
6
Show member pathways
8.5DPYD, DPYS, UPB1
7
Show member pathways
8.5DPYD, DPYS, UPB1

GO Terms for genes affiliated with Beta-Ureidopropionase Deficiency

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

idNameGO IDScoreTop Affiliating Genes
1beta-alanine biosynthetic processGO:00194839.4DPYD, UPB1
2uracil catabolic processGO:00062129.1DPYD, DPYS
3thymine catabolic processGO:00062109.0DPYD, DPYS
4pyrimidine nucleobase catabolic processGO:00062088.8DPYD, DPYS
5pyrimidine nucleoside catabolic processGO:00461358.5DPYD, DPYS, UPB1

Sources for Beta-Ureidopropionase Deficiency

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet