rpi deficiency | Ribose-5-Phosphate Isomerase Deficiency: New Inborn E

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Ribose-5-Phosphate Isomerase Deficiency: New Inborn Error in …
nih.gov

https://www.ncbi.nlm.nih.gov/pmc/journals/203/

WEBFeb 25, 2004 · RPI deficiency is a novel inborn error in the PPP. The most likely explanation for the biochemical abnormalities in our patient is that deficient conversion of ribulose 5-phosphate into ribose-5-phosphate leads to accumulation of pentoses and pentose phosphates, which in turn lead to accumulation of ribitol …

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Human Metabolic Enzymes Deficiency: A Genetic Mutation …
nih.gov

https://www.ncbi.nlm.nih.gov/pmc/journals/2236/

WEBMar 9, 2016 · 2.8. Ribose-5-phosphate Isomerase (RPI) Deficiency. RPI is an enzyme of PPP pathway, which catalyzes the conversion between ribulose-5-phosphate (Ru5P) and ribose-5-phosphate (R5P). With a much lower number of diagnosed patients, RPI deficiency is currently the rarest disease in the world [113, 114].

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Rare case of ribose 5 phosphate isomerase deficiency with slowly
microsoft.com

http://go.microsoft.com/fwlink/?LinkID=617350

WEBAug 11, 2017 · Ribose 5 phosphate isomerase deficiency (RPID) is a rare inborn error of metabolism in the pentose phosphate pathway (PPP) 1 with a single case reported to date. 2,3 The previously reported patient had leukoencephalopathy with a …

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