I Could Interest You With Essential Topics That Can Improve Your Health.
Posted By: Nweze
About this Talent:
There are several rare diseases that have been causing concern for decades now.RPI deficiency is the world's rarest disease.It is a crucial enzyme in a metabolic process in the human body.It is a highly conserved protein that exist in two forms namely RIPA and RIPB and it is found in both prokaryotic and eukaryotic cells.It acts as an enzyme and help ribose- 5 -phosphate to get converted into ribulose-5-phosphate.RIPA has a significant influence in the calvin cycle in plants and the pentose phosphate pathway in both plants and anumals.
Ribose-5-phosphate isomerase deficiency is a very genetic disorder caused by mutations in an enzyme of the hexose monosphate shunt called the ribose -5-phosphate isomerase.There are only three known recorded cases.The first case was detected in 1999 by van der knaapband team,where they foundva 14-year old boy suffering from developmental delay,leukoencephalopathy,seizure,psychomotor retardation and irregular polyol metabolism because of a frame shift mutation in one allele.The 2nd case was reported by Naik and fellow workers in an 18 year old boy who was suffering from similar symptomsvas first case but with a novel homozygous missense mutation and different white matter abnormality.The 3rd case was detected in a new born child with a severe psychomotor regression and leukoencephalopathy in 2018.There is no proved cure for it recently.
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| Job Price:900 | Duration : 3 Years. |
| Location: Rs.Nigeria | Languages Known : english |
