KEGG   DISEASE: Beta-ureidopropionase deficiency
Entry
H00200                      Disease                                

Name
Beta-ureidopropionase deficiency
Description
Deficiency of beta-ureidopropionase which catalyzes the biosynthesis of beta-alanine and the last step in pyrimidine degradation is an autosomal recessive condition associated with neurological and developmental problems.
Category
Inherited metabolic disease; Nervous system disease
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Congenital disorders of nucleotide metabolism
   H00200  Beta-ureidopropionase deficiency
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C55  Inborn errors of purine, pyrimidine or nucleotide metabolism
     H00200  Beta-ureidopropionase deficiency
Pathway
hsa00240  Pyrimidine metabolism
hsa00983  Drug metabolism - other enzymes
Gene
UPB1; beta-ureidopropionase [HSA:51733] [KO:K01431]
Other DBs
ICD-11: 5C55.1
ICD-10: E72.8
MeSH: C563210
OMIM: 606673
Reference
  Authors
Yaplito-Lee J, Pitt J, Meijer J, Zoetekouw L, Meinsma R, van Kuilenburg AB
  Title
Beta-ureidopropionase deficiency presenting with congenital anomalies of the urogenital and colorectal systems.
  Journal
Mol Genet Metab 93:190-4 (2008)
DOI:10.1016/j.ymgme.2007.09.009
Reference
  Authors
Assmann B, Gohlich G, Baethmann M, Wevers RA, Van Gennip AH, Van Kuilenburg AB, Dietrich C, Wagner L, Rotteveel JJ, Schaper J, Mayatepek E, Hoffmann GF, Voit T
  Title
Clinical findings and a therapeutic trial in the first patient with beta-ureidopropionase deficiency.
  Journal
Neuropediatrics 37:20-5 (2006)
DOI:10.1055/s-2006-923933
Reference
  Authors
Nyhan WL
  Title
Disorders of purine and pyrimidine metabolism.
  Journal
Mol Genet Metab 86:25-33 (2005)
DOI:10.1016/j.ymgme.2005.07.027
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