title: Genetic analysis of the first 4 patients with beta-ureidopropionase deficiency.
abstract: beta-Ureidopropionase is the third enzyme of the pyrimidine degradation pathway and it catalyses the irreversible hydrolysis of N-carbamyl-ss-aminoisobutyric acid or N-carbamyl-ss-alanine to beta-aminoisobutyric acid or ss-alanine, ammonia, and CO2. Analysis of the beta-ureidopropionase gene (UPB1) of the first 4 patients presenting with a complete enzyme deficiency, revealed the presence of 2 splice-site mutations (IVS1-2A>G and IVS8-1G>A) and one missense mutation (A85E). RT-PCR analysis of the complete beta-ureidopropionase cDNA suggested that both splice-site mutations lead to a variety of alternative splice variants, with deletions of a single or several exons. The alanine at position 85 was not conserved in other eukaryotic beta-ureidopropionase protein sequences.
authors.affiliation: Department of Clinical Chemistry, Academic Medical Center, Emma Children's Hospital, Amsterdam, The Netherlands. a.b.vanKuilenburg@amc.uva.nl
authors.forename: A B P
authors.initials: AB
authors.lastname: van Kuilenburg
authors.forename: R
authors.initials: R
authors.lastname: Meinsma
authors.forename: B
authors.initials: B
authors.lastname: Assman
authors.forename: G F
authors.initials: GF
authors.lastname: Hoffman
authors.forename: T
authors.initials: T
authors.lastname: Voit
authors.forename: A
authors.initials: A
authors.lastname: Ribes
authors.forename: I
authors.initials: I
authors.lastname: Lorente
authors.forename: R
authors.initials: R
authors.lastname: Busch
authors.forename: E
authors.initials: E
authors.lastname: Mayatepek
authors.forename: N G G M
authors.initials: NG
authors.lastname: Abeling
authors.forename: R A
authors.initials: RA
authors.lastname: Wevers
authors.forename: F
authors.initials: F
authors.lastname: Rutsch
authors.forename: A H
authors.initials: AH
authors.lastname: van Gennip
mesh_terms: D000581:Amidohydrolases / Q000172:deficiency* / Q000235:genetics*; D000595:Amino Acid Sequence; D000818:Animals; D017931:DNA Primers / Q000737:chemistry; D018076:DNA, Complementary / Q000378:metabolism; D005091:Exons; D006801:Humans; D007963:Leukocytes, Mononuclear / Q000378:metabolism; D008957:Models, Genetic; D008969:Molecular Sequence Data; D009154:Mutation; D016133:Polymerase Chain Reaction; D011686:Purine-Pyrimidine Metabolism, Inborn Errors / Q000175:diagnosis* / Q000235:genetics*
chemical_list: D017931:DNA Primers; D018076:DNA, Complementary; D000581:Amidohydrolases; C021590:beta-ureidopropionase