The document discusses normal and abnormal glucose tolerance test (GTT) responses. A normal GTT response shows fasting glucose within normal limits, the highest value within 1 hour not exceeding 180 mg/dL, and fasting levels returning by 2-2.5 hours. An abnormal diabetic GTT response shows fasting glucose over 110 mg/dL, the highest value after 1-1.5 hours exceeding 180 mg/dL, and glucose failing to return to fasting levels within 2.5 hours. The document also mentions screening of inborn errors of metabolism using dried blood spots and mass spectrometry.

1. BIOChemistry
DR AMIIT JAIN

7. DYSKERATOSIS CONGENITA:TELOMERASE GENE
DYSFUNCTION

8. METABOLIC/LACTIC ACIDOSIS

10. • Normal response(GTT)
• A typical normal response shows following
features.
• Initial fasting glucose within normal limits.
• The highest peak value is reached within 1 hour.
• The highest value doesnot exceed the renal
threshold (160-180 mg/dl).
• The fasting level is again reached by 2-2.5 hours.
• No glucose or ketone bodies are detected in any
specimen of urine.

11. Response of diabetic patients (GTT)
• Fasting blood glucose is definitely raised above 110
mg/dl.
• The highest value is reached after 1-1.5 hours.
• The highest value exceeds the renal threshold.
• The blood glucose level doesnot return to fasting level
within 2.5 hours. This is the most characteristic feature
of DM.
• Urine sample always contains glucose except in some
chronic diabetes or nephritis who may have raised
renal threshold.

12. SREENING OF IEM (DRIED BLOOD
SPOTS AND MS

13. MASS SPECTRUM

15. Phrynoderma / follicular
hyperkeratosis ( Vitamin A def)

18. CASALS NECKLACE

19. Vit c def = follicular and splinter
hemorrhages.

20. Scurvy : perifollicular hmrg and CORK
SCREW HAIRS.

21. B2

22. Leiners dis. :Chronic diarrhoea and
decrease biotin absorption (2D)

23. HYPERLIPIDIMIA TYPE 1 Refrigeration
test:

24. ERUPTIVE XANTHOMA

25. Palmer xanthoma

28. Broad beta

29. Tangiers disease

31. PORPHYRIA

33. Erythrodontia in CEP : DIAGNOSTIC

36. LESCH NYHAN

37. mucopolysachharidoses

41. Dna Replication

42. Lac operon

48. Recombinant hep B vaccine

49. RFLP Diagnosis of Sickle Cell Disease

51. Fasting changes

54. Menke disease(x linked) Tortuous
blood vessels in the brain

55. Gene cloning

56. MstII recognizes the DNA sequence
CCTNAGG

58. Microarray CGH