sumie
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Refsum;s disease is caused by an inability to properly degrade phytanic acid , resulting in an accumulation of this lipid in plasma and tissues
I- cell disease is due to a failure to add mannose-6-phosphate to a variety of glycoproteins destined for lysosomes resulting in high serum glycoprotein concentrations . Clinical features include coarse facial features ,musculo skeletal problems and respiratory difficulties. Death usually occurs in first decade of life
Essential pentosuria is caused by a deficiency of NADP+ dependent xylitol dehydrogenase which is an enzyme that converts L-xylulose to Xylitol ..In this disease, hence L-Xylitol is found in significant amounts in urine. This is a very common clinically asymptomatic genetic trait in Ashkenazy Jews.
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sumie
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| Malaysian
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Hi sumie thanks.Wanted to ask you in essential pentosuria.....if xytilol DH(which is NADP dependant)convertsing xylulose to xytilol and its deficient how does the xytilol levels increase then???Shouldn't the urine level of xylulose increase of xytilol level decrease???
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| sumie
Forum Elite
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hi malaysian
thank u so much for pointing out my mistake
it is L-Xylulose that is highly increased in urine ...not xylitol as i had mistakenly typed
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sumie
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