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Literature summary for 3.5.1.6 extracted from
- Five cases of beta-ureidopropionase deficiency detected by GC/MS analysis of urine metabolome (2009), J. Mass Spectrom., 44, 214-221.
Cloned(Commentary)
| Cloned (Comment) | Organism |
|---|---|
| gene UPB1, genotyping | Homo sapiens |
Protein Variants
| Protein Variants | Comment | Organism |
|---|---|---|
| additional information | screening for genetic deficiency in betaUPase, genotyping and phenotypes, overview | Homo sapiens |
Organism
| Organism | UniProt | Comment | Textmining |
|---|---|---|---|
| Homo sapiens | - |
gene UPB1 | - |
Synonyms
| Synonyms | Comment | Organism |
|---|---|---|
| betaUPase | - |
Homo sapiens |
General Information
| General Information | Comment | Organism |
|---|---|---|
| additional information | screening for genetic deficiency in betaUPase, GC/MS analysis of urine metabolome. Patients 1, 2, 3 and 4 are asymptomatic and patients 5 and 6 have autism and West syndrome, respectively. In the disorders in the first and second steps of pyrimidine degradation, the clinical presentation and disease severity varies considerably, even among patients in the same family | Homo sapiens |
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Release 2023.1 (January 2023)
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