What is Pentosuria?

Pentosuria is an inborn error of metabolism which is characterized by the excretion of 1 to 4 g of the pentose L-xylulose in the urine per day. Epidemiology. The condition occurs essentially in Ashkenazi Jews with an estimated incidence of the heterozygote mutation of 1/79.

Why is it called Pentosuria?

Essential pentosuria is a condition characterized by high levels of a sugar called L-xylulose in urine. The condition is so named because L-xylulose is a type of sugar called a pentose. Despite the excess sugar, affected individuals have no associated health problems.

How is essential Pentosuria diagnosis?

L-Xylulose is a reducing sugar, so it may give false diagnosis of diabetes, as it is found in high concentrations in urine. However glucose metabolism is normal in people with pentosuria, and they are not diabetic. Patients of pentosuria have a low concentration of the sugar d-xyloketose.

What is Garrod’s Tetrad?

In medicine, Garrod’s tetrad is a term named for British physician Archibald Garrod, who introduced the phrase “inborn errors of metabolism” in a lecture in 1908. The tetrad comprises four inherited metabolic diseases: albinism, alkaptonuria, cystinuria, and pentosuria.

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https://www.youtube.com/watch?v=xlDcBxoorZo&list=PLUeoxcIgubMoSDwrugJaSL4fVJyppujwt