essential pentosuria

essential pentosuria
a benign autosomal recessive deficiency of L-xylulose reductase activity, due to mutation in the DCXR gene (locus: 17q25.3), which encodes it, resulting in urinary excretion of high levels of the pentose L-xylulose.

Medical dictionary. 2011.

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  • pentosuria — The excretion of one or more pentoses in elevated amounts in the urine. alimentary p. the urinary excretion of l arabinose and l xylose, as the result of the excessive ingestion of fruits containing these pentoses. essential p. [MIM*260800] a… …   Medical dictionary

  • xylulose — threo Pentulose; a 2 ketopentose. l X. appears in the urine in cases of essential pentosuria; it is also an intermediate in the glucuronate pathway. SYN: xyloketose. x. 5 phosphate the d isomer is an intermediate in the pentose phosphate …   Medical dictionary

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  • l-xylulosuria — SYN: essential pentosuria …   Medical dictionary

  • L-xylulose reductase — L xy·lu·lose re·duc·tase (ziґlu lōs re dukґtās) [EC 1.1.1.10] an enzyme of the oxidoreductase class that catalyzes the reduction of xylulose to xylitol, using NADPH as an electron donor. Deficiency of the enzyme, an autosomal recessive… …   Medical dictionary

  • metabolic disease — ▪ pathology Introduction       any of the diseases or disorders that disrupt normal metabolism, the process of converting food to energy on a cellular (cell) level. Thousands of enzymes participating in numerous interdependent metabolic pathways… …   Universalium

  • Lactose intolerance — Classification and external resources Lactose (disaccharide of β D galactose β D glucose) is normally split by lactase. ICD 10 …   Wikipedia

  • Inborn error of metabolism — Classification and external resources ICD 10 E70 E90 ICD 9 …   Wikipedia

  • Pyruvate carboxylase deficiency — Classification and external resources Oxaloacetate is the product of pyruvate carboxylase ICD 10 E …   Wikipedia

  • Glycogen storage disease type V — Classification and external resources ICD 10 E74.0 ICD 9 271.0 …   Wikipedia

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