Orotic aciduria
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Orotic aciduria
Molecular biology
Molecular biology
Nuclear structure
DNA structure
Transcription of DNA
Translation of mRNA
Gene regulation
Epigenetics
Amino acids and protein folding
Protein structure and synthesis
Nucleotide metabolism
DNA replication
Lac operon
DNA damage and repair
Cell cycle
Mitosis and meiosis
DNA mutations
Disorders of molecular biology
Lesch-Nyhan syndrome
Orotic aciduria
Adenosine deaminase deficiency
Xeroderma pigmentosum
Li-Fraumeni syndrome
Bloom syndrome
Fanconi anemia
McCune-Albright syndrome
Acute radiation syndrome
Purine and pyrimidine synthesis and metabolism disorders: Pathology review
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Orotic aciduria
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Orotic aciduria
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First Aid
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Failure to thrive p. 579
orotic aciduria p. 428
Megaloblastic anemia p. 425, 428
orotic aciduria p. 428
Orotic aciduria p. 428
in anemia taxonomy p. 425
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Summary
Orotic aciduria refers to an autosomal genetic condition characterized by excessive excretion of orotic acid in urine. It is characterized by a deficiency in UMP (uridine monophosphate) synthase, an enzyme that normally converts orotic acid into another product called uridine monophosphate. People with orotic aciduria present with failure to thrive, poor physical and mental development, and megaloblastic anemia. The treatment may involve the replacement of uridine monophosphate.
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