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Amino Acids - Urea Cycle & Its Disorders
Carbamoyl Phosphate Synthetase I
NH3 + CO2
H2O to Urea
Hereditary Urea Cycle Defects
Acquired Through Liver Disease
Inhibits the Citric Acid Cycle
Signs & Symptoms
Slurring of Speech
Blurring of Vision
Limit Protein in Diet
Benzoate Binds Amino Acid for Excretion
Ornithine Transcarbamylase Deficiency
Most Common Urea Cycle Disorder
Signs and Symptoms
Carbamoyl Phosphate is Converted to Orotic Acid
Pyrimidine Synthesis Pathway
Evident in Babies
Defect in UMP Synthase
De Novo Pyrimidine Synthesis Pathway
Increased Orotic Acid in Urine
No Response to B12 or Folate
Failure to Thrive
Oral Uridine Monophosphate
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