Orotic aciduria

Summary of Orotic aciduria
Orotic aciduria refers to an autosomal recessive condition characterized by excessive excretion of orotic acid in urine in the presence of normal levels of ammonia in the urine. Orotic aciduria is associated with megaloblastic anemia due to decreased pyrimidine synthesis, which leads to decreased nucleotide-lipid cofactors needed for erythrocyte membrane synthesis in the bone marrow. In addition to the characteristic excessive orotic acid in the urine, patients typically have megaloblastic anemia (UMP synthase deficiency) which cannot be cured by administration of vitamin B12 or folic acid. Orotic aciduria can also cause inhibition of RNA and DNA synthesis and ultimately, failure to thrive.

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Orotic aciduria

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High Yield Notes
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Orotic aciduria

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Orotic aciduria results from a deficiency of (enzyme) .

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A 2-year-old infant boy is referred to the pediatrician's office for an evaluation of refractory megaloblastic anemia. His medical history is relevant to low-weight and growth below the third percentile since birth. The patient currently takes nutritional supplements with folate and cobalamin.Upon further interrogation, the mother reports that whenever she changes the baby's diaper she finds orange and yellowish crystals. Physical exam shows generalized pallor and delayed developmental milestones for a boy his age. His temperature is 36.4°C (97.5°F), pulse is 100/min, respirations are 16/min, blood pressure is 120/60 mmHg.  Which of the following is the most likely diagnosis? 

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