MCID: BTR002
MIFTS: 37

Beta-Ureidopropionase Deficiency

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

Aliases & Classifications for Beta-Ureidopropionase Deficiency

MalaCards integrated aliases for Beta-Ureidopropionase Deficiency:

Name: Beta-Ureidopropionase Deficiency 54 24 25 56 71 13 69
Deficiency of Beta-Ureidopropionase 25 29
Beta-Alanine Synthase Deficiency 25 56
Beta-Ureidopropionase 13
Upb1d 71

Characteristics:

Orphanet epidemiological data:

56
beta-ureidopropionase deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
six genetically confirmed patients have been reported (as of december 2009)
inborn error of the pyrimidine degradation pathway


HPO:

32
beta-ureidopropionase deficiency:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Beta-Ureidopropionase Deficiency

UniProtKB/Swiss-Prot : 71 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 scoliosis, dystonia and microcephaly. An important gene associated with Beta-Ureidopropionase Deficiency is UPB1 (Beta-Ureidopropionase 1), and among its related pathways/superpathways are Porphyrin and chlorophyll metabolism and beta-Alanine metabolism (KEGG). Affiliated tissues include liver, colon and appendix, and related phenotype is Decreased shRNA abundance (Z-score < -2).

Genetics Home Reference : 25 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 : 54
Beta-ureidopropionase deficiency is a rare autosomal recessive inborn error of metabolism due to a defect in pyrimidine degradation. Less than 10 patients have been reported, and the phenotype can range from severe neurologic involvement with mental retardation and seizures to normal neurologic development (Yaplito-Lee et al., 2008). (613161)

Related Diseases for Beta-Ureidopropionase Deficiency

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

id Related Disease Score Top Affiliating Genes
1 status epilepticus 10.0
2 dihydropyrimidine dehydrogenase deficiency 9.5 DPYD DPYS
3 melanoma and neural system tumor syndrome 9.2 DPYD DPYS
4 cataract 17, multiple types 8.9 DPYD DPYS UPB1
5 multifocal dystonia 8.8 DPYD DPYS UPB1

Graphical network of the top 20 diseases related to Beta-Ureidopropionase Deficiency:



Diseases related to Beta-Ureidopropionase Deficiency

Symptoms & Phenotypes for Beta-Ureidopropionase Deficiency

Symptoms via clinical synopsis from OMIM:

54

Neurologic- Central Nervous System:
hypotonia, neonatal
delayed psychomotor development, severe (in 2 of 6 patients)
mental retardation (in 2 of 6 patients)
normal development (in 2 of 6 patients)
seizures (in 2 of 6 patients)
more
Abdomen- Gastroin testinal:
anal atresia (in 1 of 6 patients)
duplicated appendix and distal colon (in 1 of 6 patients)

Genitourinary- Kidneys:
pelvicalyceal dilatation (in 1 of 6 patients)

Genitourinary- Bladder:
bladder exstrophy (in 1 of 6 patients)

Laboratory- Abnormalities:
increased urinary dihydropyrimidines
increased urinary, plasma, and csf n-carbamyl-beta-alanine
increased urinary, plasma, and csf n-carbamyl-beta-aminoisobutyric acid
increased urinary, plasma, and csf dihydrouracil
increased urinary, plasma, and csf dihydrothymine
more
Head And Neck- Head:
microcephaly (in 1 of 6 patients)

Genitourinary- External Genitalia Male:
bifid phallus (in 1 of 6 patients)
bifid scrotum (in 1 of 6 patients)

Genitourinary- Ureters:
ureteric dilatation (in 1 of 6 patients)

Skeletal- Spine:
scoliosis (in 1 of 6 patients)


Clinical features from OMIM:

613161

Human phenotypes related to Beta-Ureidopropionase Deficiency:

32 (show all 12)
id Description HPO Frequency HPO Source Accession
1 scoliosis 32 very rare (1%) HP:0002650
2 dystonia 32 HP:0001332
3 microcephaly 32 very rare (1%) HP:0000252
4 hypsarrhythmia 32 very rare (1%) HP:0002521
5 neonatal hypotonia 32 HP:0001319
6 intellectual disability 32 very rare (1%) HP:0001249
7 bifid scrotum 32 very rare (1%) HP:0000048
8 status epilepticus 32 very rare (1%) HP:0002133
9 anal atresia 32 very rare (1%) HP:0002023
10 bladder exstrophy 32 HP:0002836
11 neurological speech impairment 32 HP:0002167
12 delayed cns myelination 32 HP:0002188

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.4 DPYD
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-148 9.4 DPYS
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-17 9.4 DPYD
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-184 9.4 DPYD
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-203 9.4 DPYS
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-204 9.4 DPYS
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-213 9.4 DPYD
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-59 9.4 DPYD
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-61 9.4 DPYS
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-84 9.4 DPYS
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-91 9.4 DPYS DPYD

Drugs & Therapeutics for Beta-Ureidopropionase Deficiency

Search Clinical Trials , NIH Clinical Center for Beta-Ureidopropionase Deficiency

Genetic Tests for Beta-Ureidopropionase Deficiency

Genetic tests related to Beta-Ureidopropionase Deficiency:

id Genetic test Affiliating Genes
1 Deficiency of Beta-Ureidopropionase 29
2 Beta-Ureidopropionase Deficiency 24 UPB1

Anatomical Context for Beta-Ureidopropionase Deficiency

MalaCards organs/tissues related to Beta-Ureidopropionase Deficiency:

39
Liver, Colon, Appendix

Publications for Beta-Ureidopropionase Deficiency

Articles related to Beta-Ureidopropionase Deficiency:

id Title Authors Year
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
Genetic analysis of the first 4 patients with beta-ureidopropionase deficiency. ( 17065070 )
2006
5
Clinical findings and a therapeutic trial in the first patient with beta-ureidopropionase deficiency. ( 16541364 )
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

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

71
id Symbol AA change Variation ID SNP ID
1 UPB1 p.Ala85Glu VAR_026752 rs34035085

ClinVar genetic disease variations for Beta-Ureidopropionase Deficiency:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 UPB1 NM_016327.2(UPB1): c.105-2A> G single nucleotide variant Pathogenic rs138081800 GRCh37 Chromosome 22, 24896073: 24896073
2 UPB1 NM_016327.2(UPB1): c.917-2A> G single nucleotide variant Pathogenic rs876657373 GRCh38 Chromosome 22, 24523617: 24523617
3 UPB1 NM_016327.2(UPB1): c.209G> C (p.Arg70Pro) single nucleotide variant Pathogenic rs121908066 GRCh37 Chromosome 22, 24896179: 24896179

Expression for Beta-Ureidopropionase Deficiency

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

Pathways for Beta-Ureidopropionase Deficiency

GO Terms for Beta-Ureidopropionase Deficiency

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

id Name GO ID Score Top Affiliating Genes
1 thymine catabolic process GO:0006210 9.32 DPYD DPYS
2 beta-alanine biosynthetic process GO:0019483 9.26 DPYD UPB1
3 uracil catabolic process GO:0006212 9.16 DPYD DPYS
4 pyrimidine nucleobase catabolic process GO:0006208 8.96 DPYD DPYS
5 pyrimidine nucleoside catabolic process GO:0046135 8.8 DPYD DPYS UPB1

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

id Name GO ID Score Top Affiliating Genes
1 hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds GO:0016810 8.62 DPYS UPB1

Sources for Beta-Ureidopropionase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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