MCID: BTR002
MIFTS: 38

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 53 24 55 71 36 13 69
Deficiency of Beta-Ureidopropionase 24 28
Beta-Alanine Synthase Deficiency 24 55
Upb1d 53 71
Beta-Ureidopropionase 13

Characteristics:

Orphanet epidemiological data:

55
beta-ureidopropionase deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

53
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:

31
beta-ureidopropionase deficiency:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 53 613161
Orphanet 55 ORPHA65287
UMLS via Orphanet 70 C1291512
ICD10 via Orphanet 33 E79.8
MedGen 39 C1291512
MeSH 41 D011686
KEGG 36 H00200
UMLS 69 C1291512

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 streptococcal group a invasive disease, and has symptoms including dystonia, intellectual disability and neurological speech impairment. An important gene associated with Beta-Ureidopropionase Deficiency is UPB1 (Beta-Ureidopropionase 1), and among its related pathways/superpathways are Pyrimidine metabolism and Drug metabolism - other enzymes. Affiliated tissues include liver, colon and appendix, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

OMIM : 53 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)

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.

Related Diseases for Beta-Ureidopropionase Deficiency

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

# Related Disease Score Top Affiliating Genes
1 status epilepticus 10.0
2 streptococcal group a invasive disease 10.0
3 dihydropyrimidinase deficiency 9.6 DPYD DPYS
4 ornithine transcarbamylase deficiency, hyperammonemia due to 9.4 DPYD UPB1
5 dihydropyrimidine dehydrogenase deficiency 9.4 DPYD DPYS
6 pyrimidine metabolic disorder 9.2 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:

53
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:

31 (show all 13)
# Description HPO Frequency HPO Source Accession
1 dystonia 31 HP:0001332
2 intellectual disability 31 very rare (1%) HP:0001249
3 neurological speech impairment 31 HP:0002167
4 scoliosis 31 very rare (1%) HP:0002650
5 global developmental delay 31 HP:0001263
6 microcephaly 31 very rare (1%) HP:0000252
7 neonatal hypotonia 31 HP:0001319
8 anal atresia 31 very rare (1%) HP:0002023
9 bifid scrotum 31 very rare (1%) HP:0000048
10 status epilepticus 31 very rare (1%) HP:0002133
11 hypsarrhythmia 31 very rare (1%) HP:0002521
12 delayed cns myelination 31 HP:0002188
13 bladder exstrophy 31 HP:0002836

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

25 (show all 11)
# 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:

# Genetic test Affiliating Genes
1 Deficiency of Beta-Ureidopropionase 28 UPB1

Anatomical Context for Beta-Ureidopropionase Deficiency

MalaCards organs/tissues related to Beta-Ureidopropionase Deficiency:

38
Liver, Colon, Appendix

Publications for Beta-Ureidopropionase Deficiency

Articles related to Beta-Ureidopropionase Deficiency:

# 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
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
beta-Ureidopropionase deficiency: a novel inborn error of metabolism discovered using NMR spectroscopy on urine. ( 11675655 )
2001
9
Detection of beta-ureidopropionase deficiency with HPLC-electrospray tandem mass spectrometry and confirmation of the defect at the enzyme level. ( 11804209 )
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
# Symbol AA change Variation ID SNP ID
1 UPB1 p.Ala85Glu VAR_026752 rs34035085

ClinVar genetic disease variations for Beta-Ureidopropionase Deficiency:

6
# 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

Pathways related to Beta-Ureidopropionase Deficiency according to KEGG:

36
# Name Kegg Source Accession
1 Pyrimidine metabolism hsa00240
2 Drug metabolism - other enzymes hsa00983

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.27 DPYD DPYS UPB1
2
Show member pathways
12.11 DPYD DPYS UPB1
3
Show member pathways
11.84 DPYD DPYS UPB1
4
Show member pathways
11.56 DPYD DPYS UPB1
5
Show member pathways
10.86 DPYD DPYS UPB1
6 10.41 DPYD DPYS UPB1
7
Show member pathways
10.05 DPYD DPYS UPB1

GO Terms for Beta-Ureidopropionase Deficiency

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

# 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:

# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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