USMLE

Propionic Acidemia

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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

Summary

Propionic acidemia is an autosomal recessive metabolic disorder caused by the deficiency of the enzyme, propionyl-CoA carboxylase. This leads to decreased levels of methylmalonic acid, and a toxic buildup of propionic acid, measurable in the blood of affected patients. Typically, this disease presents in infants or young children with hypotonia, hepatomegaly, and seizures.