Tuesday, November 11, 2008

class of medic : PBL 2

G6PD DEFICIENCY DISEASE
What is G6PD?
G6PD stands for glucose-6-phosphate dehydrogenase which is an important enzyme in our body where a compound called NADPH is synthesized and later on brings about several essential functions regarding body regulatory...G6PD is the primary trigger enzyme of HMP pathway which is an alternative carbohydrate metabolism, just like glycolysis reaction...only that glycolysis produces ATP at the end while HMP pathway doesn't consume or produce any ATP...besides that, HMP pathway also lead to the production of ribose-5-phosphate, which is important in the synthesis of nucleotides for DNA & RNA in cells...

deficient of G6PD
no G6PD -> no HMP pathway -> no NADPH -> all functions of NADPH stopped
  • fatty acids cannot be synthesized by adipose tissues
  • steroid production are inhibited
  • body exposed to accumulation of toxins such as hydrogen peroxides...NADPH can form the antioxidants for this condition...if absent, body will suffer from oxidative stress leading to death of cells or even hemolysis (burst of red blood cells)
  • burst of red blood cell will lead to anemia...and jaundice because excess of yellow bilirubin (lysis product of hemoglobin)
  • body will be prone to infections...this is because with the absence of NADPH, the phagocytosis process by white blood cells cannot occur...
disease of G6PD deficiency
this is the X-linked recessive hereditary disease which means that there is possiblity a female either to be the patient of G6PD or just the carrier of the gene...however, in male, its either the person is affected or normal...this is characterized by the low production of G6PD enzyme in body, hemolytic anemia or neonatal jaundice...neonatal jaundice is the 1st step of diagnosing G6PD defiency as babies born with this disease will have jaundice depend on the severity of the deficiency...
other than that, G6PD deficiency can be detected where there's abnormal response towards certain infection, medications or chemicals...

things to be avoided
  • oxidant drugs : antibiotics (chloramphenol), antimalarials (primaquine), antipyretics (acetanilid), analgesics (aspirin)
  • favism : consumption of fava beans
  • chemicals : nephtalene (household mothball), methylene blue (antifungal chemicals)
so that's the overview of G6PD which i've presented today...a lot more actually regarding the processes and reactions which are involved in HMP pathway...and the biochemical explaination regarding each points...overall, good job everyone...we had done our best... :D

quote of the day:
There are two things to aim at in life..
first to get what you want,
and after that to enjoy it...

Only the wisest of mankind has achieved the second...

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