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Pentosuria is a condition where the sugar xylitol,^[1] a pentose, presents in the urine in unusually high concentrations. It was characterized as an inborn error of carbohydrate metabolism in 1908.^[2] It is associated with a deficiency of L-xylulose reductase, necessary for xylitol metabolism.^[1]^[3] L-Xylulose is a reducing sugar, so it may give false diagnosis of diabetes, as it is found in high concentrations in urine. However, people with pentosuria do not have nonstandard metabolism of glucose, like diabetics.^[4] Patients of pentosuria have a low concentration of the sugar d-xyloketose.^[5] Using, Phenyl pentosazone crystals, phloroglucin reaction, and absorption spectrum, pentose can be traced back as the reducing substance in urine, with those that have pentosuria.^[6]

Research has shown that pentosuria appears in 3 forms. The most widely studied is essential pentosuria, where a couple of grams of L-xylusol are released into a person’s system daily.^[7] Xylulose, contained in red blood cells, is composed of both a major and minor isozyme.^[8] For those diagnosed with essential pentosuria, the major isozyme appears to be the same as the minor one.^[8] Alimentary pentosuria can be acquired through fruits high in pentose.^[7] Finally, drug-induced pentosuria can be developed by those exposed to morphine, fevers, allergies, and some hormones.^[7]

Those diagnosed with Pentosuria are predominantly of Jewish root.^[1] However, it is a harmless defect, and no cure is needed.^[9]

References

^ ^a ^b ^c "pentosuria". Encyclopedia Britannica. Retrieved March 26, 2013.
^ Scriver CR (October 2008). "Garrod's Croonian Lectures (1908) and the charter 'Inborn Errors of Metabolism': albinism, alkaptonuria, cystinuria, and pentosuria at age 100 in 2008". J. Inherit. Metab. Dis. 31 (5): 580–98. doi:10.1007/s10545-008-0984-9. PMID 18850300.
^ Julia A. McMillan; Ralph D. Feigin; Catherine DeAngelis; M. Douglas Jones (1 April 2006). Oski's pediatrics: principles & practice. Lippincott Williams & Wilkins. pp. 1–. ISBN 978-0-7817-3894-1. Retrieved 5 January 2011.
^ Knox, W. Eugene (December 1958). "Sir Archibald Garrod's "Inborn Errors of Metabolism" IV.Pentosuria". The American Journal of Human Genetics 10 (4): 388. PMC 1931884. PMID 13606116.
^ Greenwald, Isidor (17 May 1930). "THE NATURE OF THE SUGAR IN FOUR CASES OF PENTOSURIA." (PDF). The Journal of Biological Chemistry 88: 1,2.
^ Stookey, LB (1 May 1909). "Pentosuria". Experimental Biology and Medicine 6 (5): 135–136. doi:10.3181/00379727-6-72.
^ ^a ^b ^c B.Tower, Donald; Edmund L. Peters; Milton A. Pogorelskin (January 1956). "Nature and Significance of Pentosuria in Neuromuscular Disease". Neurology 6 (137): 37. doi:10.1212/wnl.6.1.37. PMID 13280026.
^ ^a ^b Lane, A.B. (February 1984). "On the Nature of L-Xylulose Reductase Deficiency in Essential Pentosuria". Biochemical Genetics 23 (1-2): 61. doi:10.1007/bf00499113. PMID 3994659.
^ Touster, Oscar (May 1959). "Pentose Metabolism and Pentosuria". The American Journal of Medicine 26 (5). doi:10.1016/0002-9343(59)90231-1. PMID 13649698.

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English Journal

Garrod's fourth inborn error of metabolism solved by the identification of mutations causing pentosuria.

Pierce SB, Spurrell CH, Mandell JB, Lee MK, Zeligson S, Bereman MS, Stray SM, Fokstuen S, MacCoss MJ, Levy-Lahad E, King MC, Motulsky AG.SourceDepartment of Medicine, Division of Medical Genetics, University of Washington, Seattle, WA 98195-7720, USA.
Proceedings of the National Academy of Sciences of the United States of America.Proc Natl Acad Sci U S A.2011 Nov 8;108(45):18313-7. doi: 10.1073/pnas.1115888108. Epub 2011 Oct 31.
Pentosuria is one of four conditions hypothesized by Archibald Garrod in 1908 to be inborn errors of metabolism. Mutations responsible for the other three conditions (albinism, alkaptonuria, and cystinuria) have been identified, but the mutations responsible for pentosuria remained unknown. Pentosur
PMID 22042873

Garrod's Croonian Lectures (1908) and the charter 'Inborn Errors of Metabolism': albinism, alkaptonuria, cystinuria, and pentosuria at age 100 in 2008.

Scriver CR.SourceDepartment of Human Genetics, McGill University, Montreal, Canada. charles.scriver@mcgill.ca
Journal of inherited metabolic disease.J Inherit Metab Dis.2008 Oct;31(5):580-98. doi: 10.1007/s10545-008-0984-9. Epub 2008 Oct 12.
Garrod presented his concept of 'the inborn error of metabolism' in the 1908 Croonian Lectures to the Royal College of Physicians (London); he used albinism, alkaptonuria, cystinuria and pentosuria to illustrate. His lectures are perceived today as landmarks in the history of biochemistry, genetics
PMID 18850300

Legacies of Garrod's brilliance. One hundred years--and counting.

Rosenberg LE.SourceDepartment of Molecular Biology, Princeton University, Princeton, NJ 08544, USA. lrosenbe@Princeton.EDU
Journal of inherited metabolic disease.J Inherit Metab Dis.2008 Oct;31(5):574-9. doi: 10.1007/s10545-008-0985-8. Epub 2008 Oct 5.
One hundred years ago--in 1908--Archibald Garrod delivered his four Croonian Lectures. In these formerly forgotten, but now famous, dissertations, Garrod first used the expression, 'inborn errors of metabolism', to describe four rare disorders: albinism, alkaptonuria, cystinuria, and pentosuria. Thi
PMID 18836847

Japanese Journal

進行性筋ジストロフイー症の尿中に排泄される五炭糖と燐を含んだ物質について

阿部英治
医療 22(12), 1379-1385, 1968
… the excretion of compounds containing pentowe and phosphor rus into the urines of patients with progressive muscular dystrophy (PMD) in 1949, several papers were published on this problem, but no definite conclusion has been obtained whether the pentosuria represents a characteristic of PMD.I was able to identify that 6 out of 70 PMD patients excreted a substance of nucleotide nature in urine by employing a conventional column chromatographic technique with Dowex resin instead of applying the osazon test which had been used by the previous …
NAID 130004311016

BIOCHEMICAL STUDIES ON d-RIBOSE, WITH SPECIAL REFERENCE TO THE MECHANISM OF ABSORPTION OF SUGARS FROM INTESTINAL TRACT

NAITÔ YOSINORI
The Journal of Biochemistry 36, 131-161, 1944
… The minimum quantity of ribose, which caused pentosuria upon the intravenous injection or the oral administration to rabbits, was 250mg. …
NAID 130003535667

「ペントース尿症」

Pentosuria
	Xylulose
Classification and external resources
Specialty	endocrinology
ICD-10	E74.8
ICD-9-CM	271.8
OMIM	260800
DiseasesDB	9816

　　[★]

英: pentosuria
関: 五炭糖尿症、グルクロン酸経路、バイアルペントース(五炭糖)尿試験

キシロース還元酵素の先天異常

[Britannica-1] "pentosuria". Encyclopedia Britannica. Retrieved March 26, 2013.

[pmid18850300-2] Scriver CR (October 2008). "Garrod's Croonian Lectures (1908) and the charter 'Inborn Errors of Metabolism': albinism, alkaptonuria, cystinuria, and pentosuria at age 100 in 2008". J. Inherit. Metab. Dis. 31 (5): 580–98. doi:10.1007/s10545-008-0984-9. PMID 18850300.

[McMillanFeigin2006-3] Julia A. McMillan; Ralph D. Feigin; Catherine DeAngelis; M. Douglas Jones (1 April 2006). Oski's pediatrics: principles & practice. Lippincott Williams & Wilkins. pp. 1–. ISBN 978-0-7817-3894-1. Retrieved 5 January 2011.

[The_American_Journal_of_Human-4] Knox, W. Eugene (December 1958). "Sir Archibald Garrod's "Inborn Errors of Metabolism" IV.Pentosuria". The American Journal of Human Genetics 10 (4): 388. PMC 1931884. PMID 13606116.

[5] Greenwald, Isidor (17 May 1930). "THE NATURE OF THE SUGAR IN FOUR CASES OF PENTOSURIA." (PDF). The Journal of Biological Chemistry 88: 1,2.

[6] Stookey, LB (1 May 1909). "Pentosuria". Experimental Biology and Medicine 6 (5): 135–136. doi:10.3181/00379727-6-72.

[Nature_and_Significane_of_Pentosuria-7] B.Tower, Donald; Edmund L. Peters; Milton A. Pogorelskin (January 1956). "Nature and Significance of Pentosuria in Neuromuscular Disease". Neurology 6 (137): 37. doi:10.1212/wnl.6.1.37. PMID 13280026.

[On_the_Nature-8] Lane, A.B. (February 1984). "On the Nature of L-Xylulose Reductase Deficiency in Essential Pentosuria". Biochemical Genetics 23 (1-2): 61. doi:10.1007/bf00499113. PMID 3994659.

[American_Journal-9] Touster, Oscar (May 1959). "Pentose Metabolism and Pentosuria". The American Journal of Medicine 26 (5). doi:10.1016/0002-9343(59)90231-1. PMID 13649698.

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pentosuria