Pentosuria

A benign hereditary condition characterized by the excretion of 1 to 4 grams of pentose L-xylulose in urine per day. It is caused by mutations in the DCXR gene and occurs primarily in Ashkenazi Jewish populations. OMIM: 260800

Also Known As:

Networked: 15 relevant articles (0 outcomes, 1 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Muscular Dystrophies (Muscular Dystrophy)
2.	Inborn Errors Metabolism (Inborn Errors of Metabolism)
3.	Liver Cirrhosis (Hepatic Cirrhosis)
4.	Cystinuria
5.	Alkaptonuria

Experts

1.	Manoli, Irini: 1 article (11/2021)
2.	Vernon, Hilary J: 1 article (11/2021)
3.	Ebert, Bettina: 1 article (02/2015)
4.	Kisiela, Michael: 1 article (02/2015)
5.	Maser, Edmund: 1 article (02/2015)
6.	Ahnn, Joohong: 1 article (11/2013)
7.	Choi, Hee-Jung: 1 article (11/2013)
8.	Lee, Sun-Kyung: 1 article (11/2013)
9.	Son, Le Tho: 1 article (11/2013)
10.	Bereman, Michael S: 1 article (11/2011)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Pentosuria:

1.	PentosesIBA 08/01/1961 - "Studies of pentose metabolism in normal subjects and in patients with pentosuria and pentosuria trait." 05/01/1959 - "Pentose metabolism and pentosuria." 11/08/2011 - "Pentosuria, which affects almost exclusively individuals of Ashkenazi Jewish ancestry, is characterized by high levels of the pentose sugar L-xylulose in blood and urine and deficiency of the enzyme L-xylulose reductase. "
2.	XyluloseIBA 02/01/2015 - "Its role in the metabolism of L-xylulose has been known since 1970, when essential pentosuria was found to be associated with DCXR deficiency. " 01/01/1985 - "A new assay of red cell L-xylulose reductase activity has facilitated the identification of carriers of the essential pentosuria allele at both family and population levels. " 01/01/1985 - "Only one of the two main L-xylulose reductases present in human tissue is deficient in individuals with essential pentosuria (Lane, 1985). " 12/01/1960 - "Essential pentosuria and the glucuronate-xylulose pathway." 11/08/2011 - "Pentosuria, which affects almost exclusively individuals of Ashkenazi Jewish ancestry, is characterized by high levels of the pentose sugar L-xylulose in blood and urine and deficiency of the enzyme L-xylulose reductase. "
3.	L-xylulose reductaseIBA 02/01/1985 - "Essential pentosuria is the result of a partial deficiency of L-xylulose reductase. " 11/01/2013 - "Dicarbonyl/l-xylulose reductase (DCXR): The multifunctional pentosuria enzyme." 11/08/2011 - "Pentosuria, which affects almost exclusively individuals of Ashkenazi Jewish ancestry, is characterized by high levels of the pentose sugar L-xylulose in blood and urine and deficiency of the enzyme L-xylulose reductase. "
4.	IsoenzymesIBA 02/01/1985 - "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." 01/01/1985 - "The isozyme which is affected by the pentosuria mutation occurs as mitochondrial and cytosolic forms in normal individuals, whereas the other isozyme (which is not affected by the mutation) occurs only in the cytosol. "
5.	EnzymesIBA 11/01/2013 - "Dicarbonyl/l-xylulose reductase (DCXR): The multifunctional pentosuria enzyme." 11/08/2011 - "Pentosuria, which affects almost exclusively individuals of Ashkenazi Jewish ancestry, is characterized by high levels of the pentose sugar L-xylulose in blood and urine and deficiency of the enzyme L-xylulose reductase. "
6.	SugarsIBA 12/01/1953 - "Paper chromatography of the urinary sugar in essential pentosuria." 11/08/2011 - "Pentosuria, which affects almost exclusively individuals of Ashkenazi Jewish ancestry, is characterized by high levels of the pentose sugar L-xylulose in blood and urine and deficiency of the enzyme L-xylulose reductase. "
7.	FructosuriaIBA 11/15/1952 - "[Fructosuria, pentosuria, mannosuria; a rare familial disorder of carbohydrate metabolism]." 03/01/1947 - "The diagnosis of the less common meliturias; including pentosuria and fructosuria."
8.	Glucuronic Acid (Glucuronate)IBA 12/01/1960 - "Essential pentosuria and the glucuronate-xylulose pathway."
9.	Phosphates (Orthophosphate)IBA 04/01/1960 - "Observations concerning pentosuria and labile phosphate excretion in muscular dystrophy."
10.	Oxidoreductases (Dehydrogenase)IBA 01/01/1985 - "A new assay of red cell L-xylulose reductase activity has facilitated the identification of carriers of the essential pentosuria allele at both family and population levels. " 01/01/1985 - "Only one of the two main L-xylulose reductases present in human tissue is deficient in individuals with essential pentosuria (Lane, 1985). "

Therapies and Procedures

1.	Therapeutics 11/01/2021 - "From Sir Archibald Garrod's initial description of the tetrad of albinism, alkaptonuria, cystinuria, and pentosuria to today, the field of medicine dedicated to inborn errors of metabolism has evolved from disease identification and mechanistic discovery to the development of therapies designed to subvert biochemical defects. "