MCID: 5XP001
MIFTS: 25

5-Oxoprolinase Deficiency

Categories: Genetic diseases, Rare diseases, Metabolic diseases

Aliases & Classifications for 5-Oxoprolinase Deficiency

MalaCards integrated aliases for 5-Oxoprolinase Deficiency:

Name: 5-Oxoprolinase Deficiency 57 53 59 75 29 13 6 40 73
Oxoprolinuria Due to 5-Oxoprolinase Deficiency 57 53
Oxoprolinuria Due to Oxoprolinase Deficiency 59 75
Oplahd 57 75
5-Alpha-Oxoprolinase Deficiency 53
5-Oxoprolinase 13

Characteristics:

Orphanet epidemiological data:

59
5-oxoprolinase deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood,Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive
autosomal dominant

Miscellaneous:
some patients are clinically unaffected.


HPO:

32
5-oxoprolinase deficiency:
Inheritance autosomal recessive inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Inborn errors of metabolism


External Ids:

OMIM 57 260005
Orphanet 59 ORPHA33572
UMLS via Orphanet 74 C0268525
ICD10 via Orphanet 34 E72.8
MESH via Orphanet 45 C535322
MedGen 42 C0268525
MeSH 44 D000592
UMLS 73 C0268525

Summaries for 5-Oxoprolinase Deficiency

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 33572Disease definition5-Oxoprolinase deficiency is clinically a very heterogeneous condition characterized by 5-oxoprolinuria.EpidemiologyIt has been detected in eight patients worldwide. All affected patients have been identified because of 5-oxoprolinuria.Clinical descriptionSymptoms reported in individual patients include renal stone formation, enterocolitis, intellectual deficiency, neonatal hypoglycemia, microcytic anemia and microcephaly.Etiology5-Oxoprolinase catalyses a step in the gamma-glutamyl cycle (glutathione metabolism).Diagnostic methodsThe diagnosis is based on the finding of 5-oxoprolinuria and on the low activity of 5-oxoprolinase.Differential diagnosisOther causes of 5-oxoprolinuria include glutathione synthetase deficiency (see this term), diet (certain infant formulas and tomato juice), severe burns, Stevens-Johnson syndrome (see this term), inborn errors of metabolism not involving the gamma-glutamyl cycle, e.g. X-linked ornithine trancarbamylase deficiency, urea cycle defects, or tyrosinemia, as well as homocystinuria (see these terms), drug metabolism (paracetamol, vigabatrin, flucloxacillin, netilmicin), prematurity, malnutrition, pregnancy and nephropatic cystinosis.Genetic counselingThe disease is transmitted as an autosomal recessivetrait.Management and treatmentNo specific treatment has been proposed or tested.PrognosisThe prognosis is difficult to predict as only eight patients with different clinical symptoms have been described.Visit the Orphanet disease page for more resources.

MalaCards based summary : 5-Oxoprolinase Deficiency, also known as oxoprolinuria due to 5-oxoprolinase deficiency, is related to glutathione synthetase deficiency and microcephaly, and has symptoms including abdominal pain, diarrhea and vomiting. An important gene associated with 5-Oxoprolinase Deficiency is OPLAH (5-Oxoprolinase, ATP-Hydrolysing). Related phenotypes are vomiting and diarrhea

OMIM : 57 5-Oxoprolinuria can be caused by genetic defects in either of 2 enzymes involved in the gamma-glutamyl cycle of glutathione metabolism: glutathione synthetase (GSS; 601002) or 5-oxoprolinase (OPLAH; 614243). GSS deficiency (266130) is best characterized as an inborn error of glutathione metabolism, but there is debate as to whether OPLAH deficiency represents a disorder or simply a biochemical condition with no adverse clinical effects because patients lack a consistent clinical picture apart from 5-oxoprolinuria (summary by Calpena et al., 2013). (260005)

UniProtKB/Swiss-Prot : 75 5-oxoprolinase deficiency: A disorder characterized by calcium oxalate/carbonate urolithiasis, and excessive urinary 5-oxo-L-proline. Affected individuals have recurrent episodes of vomiting, diarrhea, and abdominal pain.

Related Diseases for 5-Oxoprolinase Deficiency

Diseases related to 5-Oxoprolinase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 glutathione synthetase deficiency 11.0
2 microcephaly 9.9
3 encephalopathy 9.9

Symptoms & Phenotypes for 5-Oxoprolinase Deficiency

Symptoms via clinical synopsis from OMIM:

57
Abdomen Gastrointestinal:
vomiting
diarrhea
enterocolitis

Genitourinary Kidneys:
calcium oxalate/carbonate urolithiasis

Abdomen:
abdominal pain

Laboratory Abnormalities:
excessive urinary 5-oxo-l-proline
5-oxoprolinase deficiency


Clinical features from OMIM:

260005

Human phenotypes related to 5-Oxoprolinase Deficiency:

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 vomiting 32 HP:0002013
2 diarrhea 32 HP:0002014
3 abdominal pain 32 HP:0002027
4 prolinuria 32 HP:0003137
5 enterocolitis 32 HP:0004387
6 calcium oxalate nephrolithiasis 32 HP:0008672
7 5-oxoprolinase deficiency 32 HP:0040142
8 increased level of l-pyroglutamic acid in urine 32 HP:0410132

UMLS symptoms related to 5-Oxoprolinase Deficiency:


abdominal pain, diarrhea, vomiting

Drugs & Therapeutics for 5-Oxoprolinase Deficiency

Search Clinical Trials , NIH Clinical Center for 5-Oxoprolinase Deficiency

Genetic Tests for 5-Oxoprolinase Deficiency

Genetic tests related to 5-Oxoprolinase Deficiency:

# Genetic test Affiliating Genes
1 5-Oxoprolinase Deficiency 29 OPLAH

Anatomical Context for 5-Oxoprolinase Deficiency

Publications for 5-Oxoprolinase Deficiency

Articles related to 5-Oxoprolinase Deficiency:

# Title Authors Year
1
Five Chinese patients with 5-oxoprolinuria due to glutathione synthetase and 5-oxoprolinase deficiencies. ( 25851806 )
2015
2
New insights into the genetics of 5-oxoprolinase deficiency and further evidence that it is a benign biochemical condition. ( 25129617 )
2014
3
5-Oxoprolinase deficiency: report of the first human OPLAH mutation. ( 21651516 )
2012
4
[5-Oxoprolinase deficiency]. ( 9590071 )
1998
5
Growth failure, encephalopathy, and endocrine dysfunctions in two siblings, one with 5-oxoprolinase deficiency. ( 9453376 )
1997
6
5-Oxoprolinase deficiency associated with severe psychomotor developmental delay, failure to thrive, microcephaly and microcytic anaemia. ( 7542714 )
1995
7
5-Oxoprolinuria associated with 5-oxoprolinase deficiency; further evidence that this is a benign disorder. ( 8127060 )
1993
8
5-oxoprolinuria due to hereditary 5-oxoprolinase deficiency in two brothers--a new inborn error of the gamma-glutamyl cycle. ( 6113726 )
1981

Variations for 5-Oxoprolinase Deficiency

ClinVar genetic disease variations for 5-Oxoprolinase Deficiency:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 OPLAH OPLAH, 1-BP INS, 2601C insertion Pathogenic
2 OPLAH NM_017570.4(OPLAH): c.969C> A (p.Ser323Arg) single nucleotide variant Pathogenic rs398122906 GRCh37 Chromosome 8, 145113032: 145113032
3 OPLAH NM_017570.4(OPLAH): c.969C> A (p.Ser323Arg) single nucleotide variant Pathogenic rs398122906 GRCh38 Chromosome 8, 144058129: 144058129
4 OPLAH NM_017570.4(OPLAH): c.3265G> A (p.Val1089Ile) single nucleotide variant Pathogenic rs185836803 GRCh37 Chromosome 8, 145107390: 145107390
5 OPLAH NM_017570.4(OPLAH): c.3265G> A (p.Val1089Ile) single nucleotide variant Pathogenic rs185836803 GRCh38 Chromosome 8, 144052487: 144052487
6 OPLAH NM_017570.4(OPLAH): c.2964C> T (p.Asp988=) single nucleotide variant Benign rs186192116 GRCh37 Chromosome 8, 145107940: 145107940
7 OPLAH NM_017570.4(OPLAH): c.2964C> T (p.Asp988=) single nucleotide variant Benign rs186192116 GRCh38 Chromosome 8, 144053037: 144053037

Expression for 5-Oxoprolinase Deficiency

Search GEO for disease gene expression data for 5-Oxoprolinase Deficiency.

Pathways for 5-Oxoprolinase Deficiency

GO Terms for 5-Oxoprolinase Deficiency

Sources for 5-Oxoprolinase Deficiency

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
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