orotic aciduria

orotic aciduria
A rare disorder of pyrimidine metabolism characterized by hypochromic anemia with megaloblastic changes in bone marrow, leukopenia, retarded growth, and urinary excretion of orotic acid; autosomal recessive inheritance, caused by mutation in the uridine monophosphatate synthase gene (MMPS) on 3q13. [orotic acid + G. ouron, urine]

Medical dictionary. 2011.

Поможем студентам написать доклад

Look at other dictionaries:

  • Orotic aciduria — Classification and external resources orotic acid ICD 9 281 …   Wikipedia

  • orotic aciduria — …   Useful english dictionary

  • Orotic acid — Systematic (IUPAC) name 1,2,3,6 tetrahydro 2,6 dioxo 4 pyrimidinecarboxylic acid Clinical data AHFS/Drugs.com …   Wikipedia

  • Uridine monophosphate synthetase — PDB rendering based on 2eaw …   Wikipedia

  • Inborn error of metabolism — Classification and external resources ICD 10 E70 E90 ICD 9 …   Wikipedia

  • List of diseases (O) — A list of diseases in the English wikipedia.O Ob* O Doherty syndrome * O Donnell Pappas syndrome * Obesity * Obesophobia * Obsessive compulsive disorder * Obstructive asymmetric septal hypertrophy * Obstructive sleep apneaOcOcc Och* Occipital… …   Wikipedia

  • Uridine monophosphate — Chembox new ImageFile=UMP chemical structure.png ImageSize= IUPACName= OtherNames= Section1= Chembox Identifiers CASNo=58 97 9 PubChem=1172 SMILES=C1=CN(C(=O)NC1=O) C2C(C(C(O2)COP(=O)(O)O)O)O MeSHName=Uridine+monophosphate Section2= Chembox… …   Wikipedia

  • orotate — A salt or ester of orotic acid. o. phosphoribosyltransferase a phosphoribosyltransferase synthesizing orotidylate and pyrophosphate from o. and 5 phospho α d ribosyl 1 pyrophosphate; this enzyme is a part of pyrimidine …   Medical dictionary

  • Orotidine 5'-monophosphate — IUPAC name 3 [(2R,3R,4S,5R) 3,4 dihydroxy 5 ​(phosphonooxymethyl)oxolan 2 yl]​ 2,6 dioxo pyrimid …   Wikipedia

  • Gout — Podagra redirects here. For the moth genus, see Podagra (moth). Gout Classification and external resources Gout, a 1799 caricature by James Gillray …   Wikipedia

Share the article and excerpts

Direct link
Do a right-click on the link above
and select “Copy Link”