Confirmation of the enzyme defect in the first case of beta-ureidopropionase deficiency. Beta-alanine deficiency.
van Kuilenburg
A B
AB
Academic Medical Center, University of Amsterdam, Emma Children's Hospital, The Netherlands.
van Lenthe
H
H
Ratmann
G G
GG
Assmann
B
B
Hoffmann
G F
GF
Brautigam
C
C
van Gennip
A H
AH
D000015:Abnormalities, Multiple / Q000201:enzymology; D000581:Amidohydrolases / Q000172:deficiency*; D042943:Dihydrouracil Dehydrogenase (NADP); D005260:Female; D006801:Humans; D007223:Infant; D010088:Oxidoreductases / Q000378:metabolism; D015091:beta-Alanine / Q000172:deficiency*
D015091:beta-Alanine; D010088:Oxidoreductases; D042943:Dihydrouracil Dehydrogenase (NADP); D000581:Amidohydrolases; C021590:beta-ureidopropionase