GargoylismPersistentkidneystonesHeartNoperoxisomesGaucherDiseaseSlovakia<1,000worldwideOxidativestresstriggerMuscleglycogenphosphorylasemonitoredexercisewithsucroseMyelinPentosephosphatepathwayAmmonia>150 umol/Land aniongap <20EarlychildhoodPhenylalaninehydroxylaseValineandleucineWeaning,6-12 mos1/1,3001/1,800IncreasedhydrationGalactoseinschoolfoodsGlycogensynthasecongenitalskeletaldeformitySelfharmBrain MRIbaseline &yearlyMRIRegressionof motorskillsKidneydamage/failureinfantscreeninganyageElevatedbilirubinCalciumphosphateandCarbonate25%50%boys;0% girlsAdrenoleukodystrophy(Zellweger moderateform)100%boys; girlswill becarriersRecombinantgene therapyTreatsymptomsHypoglycemiaUrine smellsof rancidbutter orcabbagesMyopiaHepato-splenomegalyNeonatalperiodGalactose-1-phosphateuridyltransferaseDarkento brownor blackHepato-splenomegaly& lacticacidosisFrequentsmallmealsDegradationof HemeFailuretothriveSolute carrierorganicaniontransporter0%HypotoniaPhenobarbitalHighproteindietHemeparent notcompliantwithprescribeddiet1/33 to1/14SweetsmellingurineB12andIronAmmoniais toxic tothe brainFructosefree dietTyrosinemiaIAshkenaziJewsAutosomalrecessiveDNATestingGargoylismPersistentkidneystonesHeartNoperoxisomesGaucherDiseaseSlovakia<1,000worldwideOxidativestresstriggerMuscleglycogenphosphorylasemonitoredexercisewithsucroseMyelinPentosephosphatepathwayAmmonia>150 umol/Land aniongap <20EarlychildhoodPhenylalaninehydroxylaseValineandleucineWeaning,6-12 mos1/1,3001/1,800IncreasedhydrationGalactoseinschoolfoodsGlycogensynthasecongenitalskeletaldeformitySelfharmBrain MRIbaseline &yearlyMRIRegressionof motorskillsKidneydamage/failureinfantscreeninganyageElevatedbilirubinCalciumphosphateandCarbonate25%50%boys;0% girlsAdrenoleukodystrophy(Zellweger moderateform)100%boys; girlswill becarriersRecombinantgene therapyTreatsymptomsHypoglycemiaUrine smellsof rancidbutter orcabbagesMyopiaHepato-splenomegalyNeonatalperiodGalactose-1-phosphateuridyltransferaseDarkento brownor blackHepato-splenomegaly& lacticacidosisFrequentsmallmealsDegradationof HemeFailuretothriveSolute carrierorganicaniontransporter0%HypotoniaPhenobarbitalHighproteindietHemeparent notcompliantwithprescribeddiet1/33 to1/14SweetsmellingurineB12andIronAmmoniais toxic tothe brainFructosefree dietTyrosinemiaIAshkenaziJewsAutosomalrecessiveDNATesting

Inherited Metabolic Disorders - Call List

(Print) Use this randomly generated list as your call list when playing the game. Place some kind of mark (like an X, a checkmark, a dot, tally mark, etc) on each cell as you announce it, to keep track. You can also cut out each item, place them in a bag and pull words from the bag.


1
N
2
N
3
N
4
B
5
B
6
I
7
I
8
G
9
B
10
O
11
B
12
B
13
N
14
G
15
B
16
B
17
G
18
I
19
I
20
O
21
O
22
B
23
G
24
G
25
O
26
G
27
N
28
G
29
G
30
N
31
O
32
I
33
G
34
B
35
G
36
O
37
O
38
N
39
N
40
N
41
N
42
I
43
B
44
N
45
N
46
O
47
B
48
N
49
B
50
I
51
N
52
O
53
O
54
B
55
G
56
I
57
N
58
O
59
B
60
O
61
B
62
I
63
I
64
O
  1. N-Gargoylism
  2. N-Persistent kidney stones
  3. N-Heart
  4. B-No peroxisomes
  5. B-Gaucher Disease
  6. I-Slovakia
  7. I-<1,000 worldwide
  8. G-Oxidative stress trigger
  9. B-Muscle glycogen phosphorylase
  10. O-monitored exercise with sucrose
  11. B-Myelin
  12. B-Pentose phosphate pathway
  13. N-Ammonia >150 umol/L and anion gap <20
  14. G-Early childhood
  15. B-Phenylalanine hydroxylase
  16. B-Valine and leucine
  17. G-Weaning, 6-12 mos
  18. I-1/1,300
  19. I-1/1,800
  20. O-Increased hydration
  21. O-Galactose in school foods
  22. B-Glycogen synthase
  23. G-congenital skeletal deformity
  24. G-Self harm
  25. O-Brain MRI baseline & yearly MRI
  26. G-Regression of motor skills
  27. N-Kidney damage/ failure
  28. G-infant screening
  29. G-any age
  30. N-Elevated bilirubin
  31. O-Calcium phosphate and Carbonate
  32. I-25%
  33. G-50% boys; 0% girls
  34. B-Adrenoleukodystrophy (Zellweger moderate form)
  35. G-100% boys; girls will be carriers
  36. O-Recombinant gene therapy
  37. O-Treat symptoms
  38. N-Hypoglycemia
  39. N-Urine smells of rancid butter or cabbages
  40. N-Myopia
  41. N-Hepato-splenomegaly
  42. I-Neonatal period
  43. B-Galactose-1-phosphate uridyltransferase
  44. N-Darken to brown or black
  45. N-Hepato- splenomegaly & lactic acidosis
  46. O-Frequent small meals
  47. B-Degradation of Heme
  48. N-Failure to thrive
  49. B-Solute carrier organic anion transporter
  50. I-0%
  51. N-Hypotonia
  52. O-Phenobarbital
  53. O-High protein diet
  54. B-Heme
  55. G-parent not compliant with prescribed diet
  56. I-1/33 to 1/14
  57. N-Sweet smelling urine
  58. O-B12 and Iron
  59. B-Ammonia is toxic to the brain
  60. O-Fructose free diet
  61. B-Tyrosinemia I
  62. I-Ashkenazi Jews
  63. I-Autosomal recessive
  64. O-DNA Testing