USMLE

Ornithine Transcarbamylase Deficiency

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Metabolic Disorders
  1. Albinism
  2. Pyruvate Dehydrogenase Deficiency
  3. Pyruvate Kinase Deficiency
  4. G6PD Deficiency
  5. Essential Fructosuria
  6. Hereditary Fructose Intolerance
  7. Galactosemia
  8. Galactokinase Deficiency
  9. Lactase Deficiency
  10. Ornithine Transcarbamylase Deficiency
  11. Phenylketonuria (PKU)
  12. Maple Syrup Urine Disease
  13. Alkaptonuria
  14. Homocystinuria
  15. Cystinuria
  16. Propionic Acidemia
  17. Lesch-Nyhan Syndrome
  18. Systemic Primary Carnitine Deficiency
  19. MCAD Deficiency

Ornithine Transcarbamylase Deficiency is the most common disorder of the Urea Cycle.

Inherited in an X-linked recessive pattern, affected patients will have elevated ammonia (hyperammonemia), manifesting as lethargy and asterixis. Other laboratory findings include a decreased BUN, elevated carbamoyl phosphate, and elevated orotic acid.

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