Beta-ureidopropionase deficiency

General Information (adopted from Orphanet):

Synonyms, Signs: Beta-alanine synthase deficiency
Number of Symptoms 31
OrphanetNr: 65287
OMIM Id: 613161
ICD-10: E79.8
UMLs: C1291512
MeSH:
MedDRA:
Snomed: 124511000

Prevalence, inheritance and age of onset:

Prevalence: 5 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: AARSKOG SYNDROME, AUTOSOMAL DOMINANT
 -AARSKOG SYNDROME, AUTOSOMAL DOMINANT
Disorder of pyrimidine metabolism
 -Rare genetic disease
Metabolic neurotransmission anomaly with epilepsy
 -Rare neurologic disease
Neurometabolic disease
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000072) Hydroureter 146 / 7739
2
 (HPO:0002836) Bladder exstrophy 8 / 7739
3
 (HPO:0000048) Bifid scrotum 1/6 [HPO:skoehler] 36 / 7739
4
 (HPO:0000252) Microcephaly 1/6 [HPO:skoehler] 832 / 7739
5
 (HPO:0001327) Photomyoclonic seizures 125 / 7739
6
 (HPO:0002133) Status epilepticus 1/6 [HPO:skoehler] 59 / 7739
7
 (HPO:0002167) Neurological speech impairment 308 / 7739
8
 (HPO:0001249) Intellectual disability 2/6 [HPO:skoehler] 1089 / 7739
9
 (HPO:0001250) Seizures 1245 / 7739
10
 (HPO:0002521) Hypsarrhythmia 1/6 [HPO:skoehler] 43 / 7739
11
 (HPO:0001332) Dystonia 197 / 7739
12
 (HPO:0002650) Scoliosis 1/6 [HPO:skoehler] 705 / 7739
13
 (HPO:0002023) Anal atresia 1/6 [HPO:skoehler] 135 / 7739
14
 (HPO:0100548) Exstrophy 4 / 7739
15
 (HPO:0001319) Neonatal hypotonia 101 / 7739
16
 (HPO:0002188) Delayed CNS myelination 16 / 7739
17
 (OMIM) Absence of beta-ureidopropionase activity and protein in liver biopsy 1 / 7739
18
 (OMIM) Increased urinary, plasma, and CSF dihydrothymine 1 / 7739
19
 (OMIM) Pelvicalyceal dilatation 3 / 7739
20
 (OMIM) Increased urinary, plasma, and CSF N-carbamyl-beta-alanine 1 / 7739
21
 (OMIM) Increased urinary, plasma, and CSF N-carbamyl-beta-aminoisobutyric acid 1 / 7739
22
 (OMIM) MRI shows delayed myelination (1 of 6 patients) 1 / 7739
23
 (OMIM) Increased urinary dihydropyrimidines 1 / 7739
24
 (OMIM) Duplicated appendix and distal colon (in 1 of 6 patients) 1 / 7739
25
 (OMIM) Normal development 4 / 7739
26
 (OMIM) Increased urinary, plasma, and CSF dihydrouracil 1 / 7739
27
 (OMIM) Delayed psychomotor development, severe 14 / 7739
28
 (OMIM) EEG shows hypsarrhythmia 4 / 7739
29
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
30
 (OMIM) Bifid phallus (in 1 of 6 patients) 1 / 7739
31
 (HPO:0003593) Infantile onset 249 / 7739

Associated genes:

UPB1;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Beta-ureidopropionase deficiency is a very 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 ...
Clinical Description OMIM Assmann et al. (1998) reported a 17-month-old girl who presented with muscular hypotonia, dystonic movements, scoliosis, microcephaly, and severe developmental delay. Biochemical studies showed increased N-carbamyl-beta-alanine and N-carbamyl-beta-aminoisobutyric acid in plasma, urine, and cerebrospinal fluid (CSF). Van Kuilenburg et ...
Molecular genetics OMIM Van Kuilenburg et al. (2004) reported 3 mutant alleles in the UPB1 gene among 4 patients with beta-ureidopropionase deficiency, including the original patient described by Assmann et al. (1998) (606673.0001-606673.0003). The authors speculated that an altered homeostasis of beta-aminoisobutyric ...