Cloned (Comment) | Organism |
---|---|
gene UPB1 | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
R326Q | naturally occuring mutation causing enzyme deficiency, phenotype | Homo sapiens |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | Q9UBR1 | gene UPB1 | - |
General Information | Comment | Organism |
---|---|---|
malfunction | beta-ureidopropionase deficiency is a rare inborn error of metabolism (IEM) affecting pyrimidine metabolism. Enzyme deficiency, due to enzyme mutation, R326Q, and Dravet syndrome, combine cause intractable and recurrent convulsions, global developmental delay and microcephaly. Excessive amount of beta-ureidopropionic acid and beta-ureidoisobutyric acid, the two disease-specific markers for beta-ureidopropionase deficiency. Differentiation between Dravet syndrome and beta-ureidopropionase deficiency is clinically challenging since both conditions share overlapping clinical features, usage of NMR or GC-MS is helpful in laboratory diagnosis | Homo sapiens |