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Pentosuria

Essential Pentosuria


Presentation

  • 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]
  • Overview Pentosuria is a condition where xylulose (a pentose) presents in the urine in unusually high concentrations.An inborn metabolic disorder where an enzyme (xylitol dehydrogenase reductase) deficiency results in excessive urinary excretion of a[checkorphan.org]
  • It is an innocuous condition, presumably present from birth, and has been described almost exclusively in Jews.[annals.org]
  • Pentosuria is a condition where the sugar xylitol , [1] a pentose , presents in the urine in unusually high concentrations.[en.wikipedia.org]
  • There has been no evidence to show that essential pentosuria is related in any way to diabetes mellitus, and no complete report of their combined occurrence can be found in the literature. 1 In the first case presented here the patient was suffering from[jamanetwork.com]
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]
  • Mercury poisoning typically produces clinically disabling symptoms only in approximately 10% of a population uniformly exposed to low but toxic doses of the metal.[emedicine.medscape.com]

Treatment

  • Possible healthcare treatment Options Treatments done for Pentosuria often consists of potential treatments and medications which are administered orally. Please talk with your registered doctor for guidance.[besttreatmenthq.com]
  • Treatment Avoid pentoses in the diet.[indiastudychannel.com]
  • 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]
  • Treatment - Pentosuria Not supplied. Resources - Pentosuria Not supplied.[checkorphan.org]

Prognosis

  • Prognosis - Pentosuria Not supplied. Treatment - Pentosuria Not supplied. Resources - Pentosuria Not supplied.[checkorphan.org]

Etiology

  • ETIOLOGI PENTOSURIA Pentosuria esensial dapat disebabkan oleh faktor keturunan ( familial tendency ) dan beberapa obat-obat tertentu. Pentosuria esensial karena keturunan disebabkan oleh mutasi pada gen DCXR.[iknowledges.blogspot.com]

Epidemiology

  • […] derivatives Ragged red diseases (ie, limb-girdle neuromuscular diseases with ragged red fibers seen on trichrome stain of frozen biopsied specimens) Defects of mitochondria, especially of the electron transport chain and of proteins coded by mitochondrial DNA Epidemiology[emedicine.medscape.com]
Sex distribution
Age distribution

Pathophysiology

  • As a result, we now know many genetic defects responsible for neurological disease, but frequently we do not know much about the resulting protein product and therefore the pathophysiologic basis for the disease. [ 6 ] Pathophysiology The human genome[emedicine.medscape.com]

Prevention

  • Symptoms - Pentosuria Excess L-xylulose in urine Causes - Pentosuria Hereditary pentosuria Prevention - Pentosuria Not supplied. Diagnosis - Pentosuria Not supplied. Prognosis - Pentosuria Not supplied. Treatment - Pentosuria Not supplied.[checkorphan.org]
  • 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]
  • Unfortunately, no recognized dietary or preventive measures exist for MS, and only certain drugs related to immune phenomena, such as the ABC drugs, can decrease the risk of a relapse of MS.[emedicine.medscape.com]

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