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Pentosuria

Essential Pentosuria


Presentation

  • Summary 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.[oadoi.org]
  • 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.[ncbi.nlm.nih.gov]
  • Pentosuria is a condition where the sugar xylitol, a pentose, presents in the urine in unusually high concentrations. It was characterized as an inborn error of carbohydrate metabolism in 1908.[en.wikipedia.org]
Infertility
  • Deficiency of the DCXR gene causes a human clinical condition called pentosuria and low DCXR activity is implicated in age-related diseases including cancers, diabetes, and human male infertility.[ncbi.nlm.nih.gov]
Disability
  • No disabilities are incurred, and no dietary or other measures are necessary. Reducing properties of the urine of affected individuals may lead to confusion with, and unnecessary treatment for, diabetes mellitus, which is not related to pentosuria.[britannica.com]
Developmental Delay
  • Deficiency of ribose-5-phosphate isomerase has been described in one patient who suffered from a progressive leukoencephalopathy and developmental delay.[ommbid.mhmedical.com]
Amyloidosis
  • Sanfilippo - 4:Morquio - 6:Maroteaux-Lamy - 7:Sly Glycoprotein Mucolipidosis - I-cell disease - Pseudo-Hurler polydystrophy - Aspartylglucosaminuria - Fucosidosis - Alpha-mannosidosis - Sialidosis Other Alpha 1-antitrypsin deficiency - Cystic fibrosis - Amyloidosis[wikidoc.org]
Pain
  • Management Frontiers in Medicine Epidemics Zika Virus Ebola Virus American College of Cardiology (ACC) Meeting View all topics Health Policy Epidemics Pain Management Ebola Virus Multimedia Multimedia Selected Multimedia View all multimedia Audio Clinical[nejm.org]
Xanthoma
  • […] disease Neuronal ceroid lipofuscinosis ( Batten disease ) - Cerebrotendineous xanthomatosis - Cholesteryl ester storage disease ( Wolman disease ) Other lipid Lipoprotein/lipidemias: Hyperlipidemia - Hypercholesterolemia - Familial hypercholesterolemia - Xanthoma[wikidoc.org]
Suggestibility
  • It is suggested that homozygosity for the pentosuria allele results in the absence of the major isozyme and that the residual isozyme of pentosurics is identical to the minor isozyme of normal individuals.[ncbi.nlm.nih.gov]
  • The combined frequency of the two mutant DCXR alleles in 1,067 Ashkenazi Jewish controls was 0.0173, suggesting a pentosuria frequency of approximately one in 3,300 in this population.[ncbi.nlm.nih.gov]
  • This observation suggests that neither DCXR mutant allele produces stable protein.[pnas.org]

Workup

Hyponatremia
  • […] enteropathica - PO 4 3 Hypophosphatemia / Hypophosphatasia - Mg 2 Hypermagnesemia / Hypomagnesemia - Ca 2 Hypercalcaemia / Hypocalcaemia / Disorders of calcium metabolism Fluid, electrolyte and acid-base balance Electrolyte disturbance - Na Hypernatremia / Hyponatremia[wikidoc.org]

Treatment

  • Reducing properties of the urine of affected individuals may lead to confusion with, and unnecessary treatment for, diabetes mellitus, which is not related to pentosuria. Pentosuria has been observed almost exclusively in persons of Jewish descent.[britannica.com]
  • You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.[rarediseases.info.nih.gov]

Prognosis

  • What is the Prognosis of Pentosuria? (Outcomes/Resolutions) The prognosis of Pentosuria is mostly good, since no significant symptoms are noted.[dovemed.com]

Etiology

  • Etiology It is due to mutations in the DCXR gene on chromosome 17 that codes for L-xylulose reductase (or L-xylitol dehydrogenase), an enzyme that catalyzes the conversion of 1-xylulose into xylitol.[rarediseases.info.nih.gov]

Epidemiology

  • Epidemiology The condition occurs essentially in Ashkenazi Jews with an estimated incidence of the heterozygote mutation of 1/79. Clinical description Pentosuria is benign and shows no symptoms.[rarediseases.info.nih.gov]
Sex distribution
Age distribution

Prevention

  • How can Pentosuria be Prevented? Currently, Pentosuria may not be preventable, since it is a genetic disorder.[dovemed.com]
  • Copper sulphate furnishes Cu2 ions and sodium citrate prevents the precipitation of cupric ions as cupric hydroxide by forming a loosely bound cupric- sodium –citrate complex which on dissociation gives a continuous supply of cupric ions.[usmle.biochemistryformedics.com]

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