After being overloaded with medical information in my cerebrum,i suggest to watch House MD movie.
ok..lets start with Finding Judas-House MD season 3
This story tells us about a young girl who has a disease called erytropoetic porphyria.first,they diagnose this girl has Reye’s syndrome but at the end,they misdiagnosed it untill the day of operation to remove the girl’s arm,Dr Chase who is an expertize in internal medicine got an answer!Bingo!it is justify that the girl has this genetic disease-eryhtropoeitic porphyria.
so,i wanna stress upon this two diseases
1. Eryhtropoietic porphyria
-it is chronic porphyria
causes: when expose to light,patient generate skin lesion
: due to enzymatic block after cyclization of intermediates substrate
-leading to accumulation of URO,COPRO and PROTO) which are colourless
-change to porphyrin which is red in colour and by removal of 6 hydrogen
-this porphyrin absorb light and generate ROS (singlet oxygen radical)
-might lead to photosensitivity and lysosomal damage such as skin damage,pigmentation of skin,ulceration,blister and scaring of skin
-manifested by orotic aciduria
-it is due to post viral liver failure in children associated with aspirin therapy.
-in this case,mitochondrial carbamoyl phosphate escape into cytoplasm and involved in orotic acid formation beyond the capacity to be ribosylated