Orotic aciduria
Orotic aciduria
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Fatty acid synthesis
Fatty acid oxidation
Orotic aciduria
Disorders of fatty acid metabolism: Pathology review
Nucleotide metabolism
Purine and pyrimidine synthesis and metabolism disorders: Pathology review
Ketone body metabolism
Endocytosis and exocytosis
Atherosclerosis and arteriosclerosis: Pathology review
Fats and lipids
Cell-cell junctions
Dyslipidemias: Pathology review
Cholesterol metabolism
Hypercholesterolemia: Clinical
Familial hypercholesterolemia
Lipid-lowering medications: Statins
Amino acid metabolism
Nitrogen and urea cycle
Disorders of amino acid metabolism: Pathology review
Nuclear structure
Resting membrane potential
Extracellular matrix
Neuron action potential
Action potentials in myocytes
Action potentials in pacemaker cells
Necrosis and apoptosis
Cell cycle
Cell signaling pathways
Hardy-Weinberg equilibrium
Introduction to the immune system
Cytokines
Innate immune system
Complement system
T-cell development
B-cell development
MHC class I and MHC class II molecules
T-cell activation
B-cell activation, differentiation, and contraction
Cell-mediated immunity of CD4 cells
Cell-mediated immunity of natural killer and CD8 cells
Antibody classes
Somatic hypermutation and affinity maturation
VDJ rearrangement
Contracting the immune response and peripheral tolerance
B- and T-cell memory
Anergy, exhaustion, and clonal deletion
Vaccinations
Type I hypersensitivity
Type II hypersensitivity
Type III hypersensitivity
Type IV hypersensitivity
Flashcards
Orotic aciduria
0 of 9 complete
Questions
USMLE® Step 1 style questions USMLE
0 of 2 complete
A 7-month-old boy is brought by his parents for a wellness visit. According to the mother, the patient has had poor weight gain despite getting adequate nutrition via a combination of breastmilk and solid foods. In addition, the patient has difficulty rolling from a prone to supine position or sitting upright unassisted. Vitals are within normal limits The patient is at the 5th percentile for weight. Physical examination reveals a frail and pale infant. Enzymatic testing is performed and confirms an absence of uridine monophosphate synthase activity. Which of the following findings is likely to be found on further evaluation?
Key Takeaways
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.