Disorder Of Pyrovate

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Disorder Of Pyrovate

  1. 1. Disorder of Pyrovate & Tricarboxylic acid Cycle By Suzanne Alodaib
  2. 2. WHAT IS Pyrovate?? <ul><li>A Compound derived from: </li></ul><ul><li>Glucose. </li></ul><ul><li>Monosacharides. </li></ul><ul><li>Lactate. </li></ul><ul><li>Gluconeogenic amino acid (alanine). </li></ul>
  3. 3. <ul><li>Pyrovate metabolism </li></ul>Succinyl Co A Glutamate ~-ketoglutarate isocitrate Aconitate Citrate Acetyl Co A Oxaloacetate Malate Fumarate succinate Aspartate Pyruvate P-enolpyruvate Glucose Lactate Alanine Fatty acids Co2 * NAD FAD # GTP * * * # * * *
  4. 4. Disorders of Pyrovate Metabolism <ul><li>Pyruvate Carboxylase Deficiency ( PC ). </li></ul><ul><li>P-enolpyruvate Carboxykinase Deficiency ( PEPCK ). </li></ul>
  5. 5. PC Deficiency <ul><li>Most severe form. </li></ul><ul><li>Less severe form (mild). </li></ul><ul><li>Benign form. </li></ul>
  6. 6. <ul><li>Pyrovate metabolism </li></ul>Succinyl Co A Glutamate ~-ketoglutarate isocitrate Aconitate Citrate Acetyl Co A Oxaloacetate Malate Fumarate succinate Aspartate Pyruvate P-enolpyruvate Glucose Lactate Alanine Fatty acids Co2 PC * NAD FAD # GTP * * * # * * *
  7. 7. Diagnostic Tests <ul><li>Assay the enzyme activity in: </li></ul><ul><li>clutured Skin fibroblasts. </li></ul><ul><li>Liver. </li></ul><ul><li>Immunoreactive protein Or mRNA. </li></ul>
  8. 8. Treatment <ul><li>Ingest charbohydrate befor bedtime. </li></ul><ul><li>Avoid fasting. </li></ul><ul><li>Pt with lactic acidosis(10% glucose IV). </li></ul><ul><li>Persistent lactic acidosis (Bicarbonate). </li></ul><ul><li>Asprtate and Citrate IV correct hyperammonemia. </li></ul><ul><li>1case was responsive to biotin(10mg/day) </li></ul>
  9. 9. PEPCK Deficiency <ul><li>Lack of Phosphoenolpyrovate carboxykinase . </li></ul>
  10. 10. Symptoms <ul><li>Hypoglycemia. </li></ul><ul><li>Lactic acidosis. </li></ul><ul><li>Neuromuscular defect. </li></ul><ul><li>Hepatocellular damage. </li></ul><ul><li>Cardiomayopathy. </li></ul><ul><li>Renal tubular acidosis. </li></ul><ul><li>Hypotonia. </li></ul><ul><li>Hepatomegaly. </li></ul><ul><li>Lethargy. </li></ul><ul><li>Failure to thrive. </li></ul>
  11. 11. PEPCK Location PEPCK PEPCK mitochondria cytosol cell
  12. 12. <ul><li>Pyrovate metabolism </li></ul>Succinyl Co A Glutamate ~-ketoglutarate isocitrate Aconitate Citrate Acetyl Co A Oxaloacetate Malate Fumarate succinate Aspartate Pyruvate P-enolpyruvate Glucose Lactate Alanine Fatty acids Co2 PEPCK * NAD FAD # GTP * * * # * * *
  13. 13. Diagnostic Tests <ul><li>PEPCK activity measured in: </li></ul><ul><li>Fresh liver sample. </li></ul><ul><li>Cultured fibroblasts (mitochondria). </li></ul>
  14. 14. Treatment <ul><li>IV glucose & sodium bicarbonate. </li></ul><ul><li>Avoid fasting. </li></ul><ul><li>Provid low-release Carb (cornstarch). </li></ul><ul><li>Restrict protein intake. </li></ul>
  15. 15. Thank you..

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