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orotic aciduria
Genetics:
- recessive
- associated with defects in UMPS (type 1)
Clinical manifestations:
- retarded growth
- anemia
Laboratory:
- orotate in urine
- excessive urinary excretion of orotic acid
- uridine monophosphate synthetase in erythrocytes
General
inborn error of metabolism
Database Correlations
OMIM 258900
References
OMIM :accession 258900