PNTSU
MCID: PNT006
MIFTS: 29

Pentosuria (PNTSU)

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

Aliases & Classifications for Pentosuria

MalaCards integrated aliases for Pentosuria:

Name: Pentosuria 57 12 75 53 25 59 74 37 13 44 72
Xylitol Dehydrogenase Deficiency 57 12 53 25 59 74
Essential Pentosuria 12 25 59 29 6 40
L-Xylulose Reductase Deficiency 57 12 53 25 74
L-Xylulosuria 57 12 53 25 74
Pntsu 57 12 74
Essential Benign Pentosuria 25

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:

Disease Ontology 12 DOID:0111258
OMIM 57 260800
KEGG 37 H01065
MeSH 44 C536652
MESH via Orphanet 45 C536652
ICD10 via Orphanet 34 E74.8
UMLS via Orphanet 73 C0268162
Orphanet 59 ORPHA2843
MedGen 42 C0268162
UMLS 72 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: 2843DefinitionPentosuria 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 heterozygote mutation 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 inherited metabolic disorder and alkaptonuria. An important gene associated with Pentosuria is DCXR (Dicarbonyl And L-Xylulose Reductase), and among its related pathways/superpathways is Pentose and glucuronate interconversions. Affiliated tissues include liver, and related phenotype is abnormality of urine homeostasis.

Disease Ontology : 12 An amino acid metabolic disorder characterized by excretion of excess pentose L-xylulose (1-4 g/day) in the urine that has material basis in homozygous or compound heterozygous mutation in DCXR on 17q25.3.

Genetics Home Reference : 25 Essential pentosuria is a condition characterized by high levels of a sugar called L-xylulose in urine. The condition is so named because L-xylulose is a type of sugar called a pentose. Despite the excess sugar, affected individuals have no associated health problems.

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)

KEGG : 37
Pentosuria is an autosomal recessive inherited condition to be inborn errors of metabolism characterized by high levels of the pentose sugar L-xylulose in blood and urine. The condition is completely clinically benign. Mutations have been identified in the DCXR gene encoding L-xylulose reductase, which are predicted to lead to loss of enzyme activity. In pentosuria, failure to convert L-xylulose to xylitol leads to accumulation of L-xylulose.

UniProtKB/Swiss-Prot : 74 Pentosuria: An inborn error of metabolism characterized by excessive urinary excretion of L-xylulose.

Wikipedia : 75 Pentosuria is a condition where the sugar xylitol, a pentose, presents in the urine in unusually high... more...

Related Diseases for Pentosuria

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

(show all 14)
# Related Disease Score Top Affiliating Genes
1 inherited metabolic disorder 10.3
2 alkaptonuria 10.3
3 cystinuria 10.3
4 neuromuscular disease 10.3
5 muscular dystrophy 10.3
6 albinism 10.3
7 galactosemia 10.1
8 renal glucosuria 10.1
9 phenylketonuria 10.1
10 male infertility 10.1
11 carbohydrate metabolic disorder 10.1
12 liver cirrhosis 10.1
13 mucopolysaccharidoses 10.1
14 progressive muscular dystrophy 10.1

Graphical network of the top 20 diseases related to Pentosuria:



Diseases related to Pentosuria

Symptoms & Phenotypes for Pentosuria

Human phenotypes related to Pentosuria:

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

Symptoms via clinical synopsis from OMIM:

57
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

Cochrane evidence based reviews: pentosuria

Genetic Tests for Pentosuria

Genetic tests related to Pentosuria:

# Genetic test Affiliating Genes
1 Essential Pentosuria 29 DCXR

Anatomical Context for Pentosuria

MalaCards organs/tissues related to Pentosuria:

41
Liver

Publications for Pentosuria

Articles related to Pentosuria:

(show top 50) (show all 53)
# Title Authors PMID Year
1
Garrod's fourth inborn error of metabolism solved by the identification of mutations causing pentosuria. 38 8 71
22042873 2011
2
Human L-xylulose reductase variation: family and population studies. 38 8
4073836 1985
3
On the nature of L-xylulose reductase deficiency in essential pentosuria. 38 8
3994659 1985
4
A Japanese case of pentosuria. 38 8
3157832 1985
5
The enzymatic defect in essential pentosuria. 38 8
4392213 1970
6
Essential pentosuria. 38 8
14455483 1962
7
The inheritance of essential pentosuria. 38 8
14437831 1960
8
Pentose metabolism and pentosuria. 38 8
13649698 1959
9
L-xylulosuria in a Lebanese family. 8
14487602 1962
10
Inborn errors of metabolism in the 21st century: past to present. 38
30740398 2018
11
Human DCXR - another 'moonlighting protein' involved in sugar metabolism, carbonyl detoxification, cell adhesion and male fertility? 38
24720935 2015
12
Dicarbonyl/l-xylulose reductase (DCXR): The multifunctional pentosuria enzyme. 38
23988570 2013
13
Garrod's Croonian Lectures (1908) and the charter 'Inborn Errors of Metabolism': albinism, alkaptonuria, cystinuria, and pentosuria at age 100 in 2008. 38
18850300 2008
14
Legacies of Garrod's brilliance. One hundred years--and counting. 38
18836847 2008
15
Henry Friesen Award Lecture. Work, the clinician-scientist and human biochemical genetics. 38
11558852 2001
16
Garrod's foresight; our hindsight. 38
11405353 2001
17
[Essential pentosuria]. 38
9590001 1998
18
An error in classical Essential pentosuria with a discussion on its origin. 38
11621986 1989
19
[Screening for congenital metabolic diseases in mentally retarded patients in 6 psychiatric institutions of Lower Saxony]. 38
6492685 1984
20
Detection of inborn errors of metabolism in 1,117 patients studied because of suspected inherited disease. 38
7294941 1981
21
[Pentosuria in a non-thriving child]. 38
7371098 1980
22
[Pentosuria in a group of psychotic patients: chemico-chromatographic research]. 38
5739564 1968
23
Pentosuria in a North American Indian. 38
6066554 1967
24
[Essential pentosuria. Report on a case]. 38
5864060 1965
25
ESSENTIAL PENTOSURIA. 38
14343031 1965
26
Essential Pentosuria. 38
20789862 1963
27
[The significance of pentosuria in rheumatic diseases]. 38
14035175 1963
28
Incidence of pentosuria. 38
14008490 1961
29
Studies of pentose metabolism in normal subjects and in patients with pentosuria and pentosuria trait. 38
13755082 1961
30
Essential pentosuria and the glucuronate-xylulose pathway. 38
13777751 1960
31
Carbohydrate metabolism in pentosuria. 38
14401665 1960
32
Observations concerning pentosuria and labile phosphate excretion in muscular dystrophy. 38
13791433 1960
33
Essential pentosuria: renal or enzymic disorder. 38
13803619 1959
34
[On the biochemistry of essential pentosuria, congenital galactosemia and phenylketonuria]. 38
14402711 1959
35
[Essential pentosuria, liver cirrhosis with abnormally increased spider formation, abuse of amidopyrine]. 38
13636940 1959
36
Sir Archibald Garrod's Inborn Errors of Metabolism. IV. Pentosuria. 38
13606116 1958
37
Studies in disorders of muscle. XI. The problem of pentosuria in progressive muscular dystrophy. 38
13358571 1956
38
Nature and significance of pentosuria in neuromuscular disease. 38
13288766 1956
39
Nature and significance of pentosuria in neuromuscular disease. 38
13280026 1956
40
Pentosuria in neuromuscular disorders. 38
14361708 1955
41
Essential pentosuria. 38
13230505 1955
42
Paper chromatography of the urinary sugar in essential pentosuria. 38
13135664 1953
43
Observations on pentosuria in neuromuscular disorders. 38
13087575 1953
44
[Fructosuria, pentosuria, mannosuria; a rare familial disorder of carbohydrate metabolism]. 38
13023951 1952
45
[Pentosuria]. 38
14808025 1950
46
Chronic essential pentosuria; a report of three cases. 38
18132568 1949
47
Renal glycosuria associated with pentosuria. 38
20290364 1947
48
PENTOSURIA. 38
20324113 1947
49
A case of pentosuria. 38
20286955 1947
50
The diagnosis of the less common meliturias; including pentosuria and fructosuria. 38
20293074 1947

Variations for Pentosuria

ClinVar genetic disease variations for Pentosuria:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 DCXR NM_016286.4(DCXR): c.583del (p.His195fs) deletion Affects 17:79994115-79994115 17:82036239-82036239
2 DCXR NM_016286.4(DCXR): c.52+1G> A single nucleotide variant Affects rs375243154 17:79995506-79995506 17:82037630-82037630

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 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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