Cloned (Comment) | Organism |
---|---|
gene UPB1, genotyping | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
additional information | screening for genetic deficiency in betaUPase, genotyping and phenotypes, overview | Homo sapiens |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
gene UPB1 | - |
Synonyms | Comment | Organism |
---|---|---|
betaUPase | - |
Homo sapiens |
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 |