PNTSU
MCID: PNT006
MIFTS: 23

Pentosuria (PNTSU)

Categories: Genetic diseases, Metabolic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Pentosuria

MalaCards integrated aliases for Pentosuria:

Name: Pentosuria 58 77 54 60 76 38 13 74
Xylitol Dehydrogenase Deficiency 58 54 60 76
L-Xylulose Reductase Deficiency 58 54 76
L-Xylulosuria 58 54 76
Pntsu 58 76
Essential Pentosuria 60

Characteristics:

Orphanet epidemiological data:

60
pentosuria
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
pentosuria:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Inborn errors of metabolism


External Ids:

OMIM 58 260800
KEGG 38 H01065
MESH via Orphanet 46 C536652
ICD10 via Orphanet 35 E74.8
UMLS via Orphanet 75 C0268162
Orphanet 60 ORPHA2843
MedGen 43 C0268162
SNOMED-CT via HPO 70 237840007 258211005
UMLS 74 C0268162

Summaries for Pentosuria

NIH Rare Diseases : 54 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 : 58 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 : 76 Pentosuria: An inborn error of metabolism characterized by excessive urinary excretion of L-xylulose.

Wikipedia : 77 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 12.6
2 neuromuscular disease 10.2
3 inherited metabolic disorder 10.2
4 muscular dystrophy 10.2
5 alkaptonuria 10.0
6 cystinuria 10.0
7 fructosuria, essential 10.0
8 renal glucosuria 10.0
9 albinism 10.0

Graphical network of the top 20 diseases related to Pentosuria:



Diseases related to Pentosuria

Symptoms & Phenotypes for Pentosuria

Human phenotypes related to Pentosuria:

33
# Description HPO Frequency HPO Source Accession
1 abnormality of urine homeostasis 33 HP:0003110

Symptoms via clinical synopsis from OMIM:

58
Laboratory Abnormalities:
increased urinary excretion of l-xylulose

Clinical features from OMIM:

260800

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
Studies of pentose metabolism in normal subjects and in patients with pentosuria and pentosuria trait. ( 13755082 )
1961
13
Incidence of pentosuria. ( 14008490 )
1961
14
Essential pentosuria and the glucuronate-xylulose pathway. ( 13777751 )
1960
15
The inheritance of essential pentosuria. ( 14437831 )
1960
16
Observations concerning pentosuria and labile phosphate excretion in muscular dystrophy. ( 13791433 )
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. ( 13280026 )
1956
22
Nature and significance of pentosuria in neuromuscular disease. ( 13288766 )
1956
23
Studies in disorders of muscle. XI. The problem of pentosuria in progressive muscular dystrophy. ( 13358571 )
1956
24
Essential pentosuria. ( 13230505 )
1955
25
Pentosuria in neuromuscular disorders. ( 14361708 )
1955
26
Paper chromatography of the urinary sugar in essential pentosuria. ( 13135664 )
1953
27
Observations on pentosuria in neuromuscular disorders. ( 13087575 )
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
The diagnosis of the less common meliturias; including pentosuria and fructosuria. ( 20293074 )
1947
32
PENTOSURIA. ( 20324113 )
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

ClinVar genetic disease variations for Pentosuria:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 DCXR NM_016286.3(DCXR): c.583delC (p.His195Thrfs) deletion Affects GRCh37 Chromosome 17, 79994115: 79994115
2 DCXR NM_016286.3(DCXR): c.583delC (p.His195Thrfs) deletion Affects GRCh38 Chromosome 17, 82036239: 82036239
3 DCXR NM_016286.3(DCXR): c.52+1G> A single nucleotide variant Affects rs375243154 GRCh38 Chromosome 17, 82037630: 82037630
4 DCXR NM_016286.3(DCXR): c.52+1G> A single nucleotide variant Affects rs375243154 GRCh37 Chromosome 17, 79995506: 79995506

Expression for Pentosuria

Search GEO for disease gene expression data for Pentosuria.

Pathways for Pentosuria

Pathways related to Pentosuria according to KEGG:

38
# 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....