Orotic aciduria is an extremely rare genetic disorder that can result in crystalluria, megaloblastic anemia Anemia Anemia is a condition in which individuals have low Hb levels, which can arise from various causes. Anemia is accompanied by a reduced number of RBCs and may manifest with fatigue, shortness of breath, pallor, and weakness. Subtypes are classified by the size of RBCs, chronicity, and etiology. Anemia: Overview and Types, developmental delay, and failure to thrive Failure to Thrive Failure to thrive (FTT), or faltering growth, describes suboptimal weight gain and growth in children. The majority of cases are due to inadequate caloric intake; however, genetic, infectious, and oncological etiologies are also common. Failure to Thrive. The disorder is caused by an enzyme deficiency in the pyrimidine synthesis Synthesis Polymerase Chain Reaction (PCR) pathway resulting in the accumulation of orotic acid. Depletion of nucleotides Nucleotides The monomeric units from which DNA or RNA polymers are constructed. They consist of a purine or pyrimidine base, a pentose sugar, and a phosphate group. Nucleic Acids leads to the symptoms of the disease. Diagnosis is made with genetic sequencing as well as urine Urine Liquid by-product of excretion produced in the kidneys, temporarily stored in the bladder until discharge through the urethra. Bowen Disease and Erythroplasia of Queyrat studies. Options for treatment include uridine monophosphate Uridine monophosphate 5'-uridylic acid. A uracil nucleotide containing one phosphate group esterified to the sugar moiety in the 2. Purine and Pyrimidine Metabolism and uridine triacetate.
Last updated: Jun 1, 2021
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