RISCC IT FOR THE BISCCUIT

JH
by julia hand4 views·Updated Mar 27, 2020
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  1. Thank you, Peter.
  2. Let's break this down for clarity.
  3. Glue. One is a member and transport pretty that is
  4. predominant in the fetus after birth.
  5. Glute one Constitution decreases with a high affinity for glucose.
  6. Gloat. One is a major constitutive facilitated glucose transporter.
  7. It is highly concentrated in endo fuel cells to efficiently
  8. send glucose between organs and the blood glue.
  9. One is critical at the blood brain barrier.
  10. Low levels of glue one.
  11. Limit the transport of glucose across this barrier, which is
  12. why I glue one deficiency syndrome.
  13. Compose such a great risk to a patient's health.
  14. And what's to blame.
  15. Mutations on the SLC to a one teen of chromosome
  16. one at P.
  17. 34.2 has mentioned in the case of our patient, she
  18. inherited the mutation as an auto symbol.
  19. Dominant trade for one of her parents.
  20. However, it is possible for the gene to be inherited
  21. as a recess, a trade or to rise as a
  22. spontaneous mutation.
  23. Of course, glucose levels are critical to proper bring growth
  24. and functioning about chemical reactions mediated that the bottom of
  25. reactions that mediate this are very complicated and fine tuned.
  26. So one glitch in the system can have a big
  27. impact. Although the precise papa physiology of held limited glucose
  28. in the brain specifically causes the symptoms of this disease
  29. is not well understood, Hypo Close.
  30. Erica is one of its hallmarks.
  31. This is low CSF glucose under normal guy systemic, which
  32. means normal blood glucose conditions, which again emphasizes the importance
  33. of functional glue, One for a healthy brain.
  34. And then you ask me the question again for Topic
  35. four differential diagnosis.
  36. Well, Peter, the tests that we connected were quite throw
  37. an indicative of our differential diagnosis.
  38. One more test could have been done in the big
  39. one. More test that could have been done.
  40. Is the bobinsky see?
  41. Science system.
  42. Okay, I'm gonna restart this burg.
  43. Well, Peter, the contest.
  44. Well, Peter, the test that we conducted were quite thorough
  45. and indicative of differential diagnosis.
  46. One more test that we could have done is the
  47. Minsky sign system to test for the Oh, I forgot
  48. to changes.
  49. I'll think.
  50. Second. Sorry.
  51. Well, Peter, the test that we did well, Peter, the
  52. test that we conducted were quite indicative of our differential
  53. diagnosis because they were very thorough.
  54. One more test that we could have done.
  55. Is the Bobinsky sign system like you fucking well here?
  56. The test that we conducted were quite thorough and indicative
  57. of our differential diagnosis.
  58. One more test that we could have done is the
  59. Levinsky Science Assessment to check for the plantar reflex, which
  60. could have further supported our findings.
  61. And abnormal reflects reveals a deficient metabolism in the cortical
  62. spinal system.
  63. But this was already confirmed using other tests, so we
  64. dated unnecessary.
  65. Also, a French company called Metaphor Biosystems is showing promise
  66. in its development of a blood test for the condition
  67. it analyzes sell energy of formalities to the blood in
  68. the blood it analyzes still energy abnormalities in the blood
  69. to diagnose glued one deficiency.
  70. This was certainly streamline the diagnosis process, which is quite