Literature summary for 3.5.1.6 extracted from

Lam, C.W.; Law, C.Y.; Leung, K.F.; Lai, C.K.; Pak-lam Chen, S.; Chan, B.; Chan, K.Y.; Yuen, Y.P.; Mak, C.M.; Yan-wo Chan, A.
NMR-based urinalysis for rapid diagnosis of beta-ureidopropionase deficiency in a patient with Dravet syndrome (2015), Clin. Chim. Acta, 440, 201-204.

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Cloned(Commentary)

Cloned (Comment)	Organism
gene UPB1	Homo sapiens

Protein Variants

Protein Variants	Comment	Organism
R326Q	naturally occuring mutation causing enzyme deficiency, phenotype	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	Q9UBR1	gene UPB1	-

General Information

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

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Release 2023.1 (January 2023)