MCID: PNT006
MIFTS: 23

Pentosuria

Categories: Genetic diseases, Rare diseases, Metabolic diseases

Aliases & Classifications for Pentosuria

MalaCards integrated aliases for Pentosuria:

Name: Pentosuria 57 76 53 59 75 37 13 73
Xylitol Dehydrogenase Deficiency 57 53 59 75
L-Xylulose Reductase Deficiency 57 53 75
L-Xylulosuria 57 53 75
Pntsu 57 75
Essential Pentosuria 59

Characteristics:

Orphanet epidemiological data:

59
pentosuria
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
benign trait
high frequency among individuals of ashkenazi jewish descent (1 in 3,300)


HPO:

32
pentosuria:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Inborn errors of metabolism


External Ids:

OMIM 57 260800
Orphanet 59 ORPHA2843
MESH via Orphanet 45 C536652
ICD10 via Orphanet 34 E74.8
UMLS via Orphanet 74 C0268162
MedGen 42 C0268162
KEGG 37 H01065
SNOMED-CT via HPO 69 258211005
UMLS 73 C0268162

Summaries for Pentosuria

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2843Disease definitionPentosuria is an inborn error of metabolism which is characterized by the excretion of 1 to 4 g of the pentose L-xylulose in the urine per day.EpidemiologyThe condition occurs essentially in Ashkenazi Jews with an estimated incidence of the heterozygotemutation of 1/79.Clinical descriptionPentosuria is benign and shows no symptoms. The sole biological feature is the constant excretion of L-xylulose in the urine that may be mistaken with glycosuria.EtiologyIt 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.Genetic counselingTransmission is autosomal recessive.Visit the Orphanet disease page for more resources.

MalaCards based summary : Pentosuria, also known as xylitol dehydrogenase deficiency, is related to essential pentosuria and neuromuscular disease. An important gene associated with Pentosuria is DCXR (Dicarbonyl And L-Xylulose Reductase), and among its related pathways/superpathways is Pentose and glucuronate interconversions. Related phenotype is abnormality of urine homeostasis.

OMIM : 57 Essential pentosuria is an inborn error of metabolism in which 1 to 4 gm of the pentose L-xylulose is excreted in the urine each day. It is a benign condition that occurs principally in individuals of Ashkenazi Jewish descent (summary by Hiatt, 2001). (260800)

UniProtKB/Swiss-Prot : 75 Pentosuria: An inborn error of metabolism characterized by excessive urinary excretion of L-xylulose.

Wikipedia : 76 Pentosuria is a condition where the sugar xylitol, a pentose, presents in the urine in unusually high... more...

Related Diseases for Pentosuria

Diseases in the Pentosuria family:

Essential Pentosuria

Diseases related to Pentosuria via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 essential pentosuria 12.4
2 neuromuscular disease 10.0
3 muscular dystrophy 10.0
4 alkaptonuria 9.9
5 cystinuria 9.9
6 aging 9.9
7 albinism 9.9

Graphical network of the top 20 diseases related to Pentosuria:



Diseases related to Pentosuria

Symptoms & Phenotypes for Pentosuria

Symptoms via clinical synopsis from OMIM:

57
Laboratory Abnormalities:
increased urinary excretion of l-xylulose


Clinical features from OMIM:

260800

Human phenotypes related to Pentosuria:

32
# Description HPO Frequency HPO Source Accession
1 abnormality of urine homeostasis 32 HP:0003110

Drugs & Therapeutics for Pentosuria

Search Clinical Trials , NIH Clinical Center for Pentosuria

Genetic Tests for Pentosuria

Anatomical Context for Pentosuria

Publications for Pentosuria

Articles related to Pentosuria:

(show all 35)
# Title Authors Year
1
Dicarbonyl/l-xylulose reductase (DCXR): The multifunctional pentosuria enzyme. ( 23988570 )
2013
2
Garrod's fourth inborn error of metabolism solved by the identification of mutations causing pentosuria. ( 22042873 )
2011
3
Garrod's Croonian Lectures (1908) and the charter 'Inborn Errors of Metabolism': albinism, alkaptonuria, cystinuria, and pentosuria at age 100 in 2008. ( 18850300 )
2008
4
An error in classical Essential pentosuria with a discussion on its origin. ( 11621986 )
1989
5
On the nature of L-xylulose reductase deficiency in essential pentosuria. ( 3994659 )
1985
6
A Japanese case of pentosuria. ( 3157832 )
1985
7
The enzymatic defect in essential pentosuria. ( 4392213 )
1970
8
Pentosuria in a North American Indian. ( 6066554 )
1967
9
ESSENTIAL PENTOSURIA. ( 14343031 )
1965
10
Essential Pentosuria. ( 20789862 )
1963
11
Essential pentosuria. ( 14455483 )
1962
12
Incidence of pentosuria. ( 14008490 )
1961
13
Studies of pentose metabolism in normal subjects and in patients with pentosuria and pentosuria trait. ( 13755082 )
1961
14
Observations concerning pentosuria and labile phosphate excretion in muscular dystrophy. ( 13791433 )
1960
15
The inheritance of essential pentosuria. ( 14437831 )
1960
16
Essential pentosuria and the glucuronate-xylulose pathway. ( 13777751 )
1960
17
Carbohydrate metabolism in pentosuria. ( 14401665 )
1960
18
Essential pentosuria: renal or enzymic disorder. ( 13803619 )
1959
19
Pentose metabolism and pentosuria. ( 13649698 )
1959
20
Sir Archibald Garrod's Inborn Errors of Metabolism. IV. Pentosuria. ( 13606116 )
1958
21
Nature and significance of pentosuria in neuromuscular disease. ( 13288766 )
1956
22
Nature and significance of pentosuria in neuromuscular disease. ( 13280026 )
1956
23
Studies in disorders of muscle. XI. The problem of pentosuria in progressive muscular dystrophy. ( 13358571 )
1956
24
Pentosuria in neuromuscular disorders. ( 14361708 )
1955
25
Essential pentosuria. ( 13230505 )
1955
26
Observations on pentosuria in neuromuscular disorders. ( 13087575 )
1953
27
Paper chromatography of the urinary sugar in essential pentosuria. ( 13135664 )
1953
28
Chronic essential pentosuria; a report of three cases. ( 18132568 )
1949
29
A case of pentosuria. ( 20286955 )
1947
30
Renal glycosuria associated with pentosuria. ( 20290364 )
1947
31
PENTOSURIA. ( 20324113 )
1947
32
The diagnosis of the less common meliturias; including pentosuria and fructosuria. ( 20293074 )
1947
33
Chronic essential pentosuria, with a report of a case. ( 20988974 )
1946
34
THE UTILIZATION OF CARBOHYDRATES IN A CASE OF CHRONIC PENTOSURIA. ( 16693695 )
1926
35
SEVEN CASES OF ESSENTIAL PENTOSURIA. ( 20770070 )
1920

Variations for Pentosuria

Expression for Pentosuria

Search GEO for disease gene expression data for Pentosuria.

Pathways for Pentosuria

Pathways related to Pentosuria according to KEGG:

37
# Name Kegg Source Accession
1 Pentose and glucuronate interconversions hsa00040

GO Terms for Pentosuria

Sources for Pentosuria

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....