5-oxoprolinase deficiency

General Information (adopted from Orphanet):

Synonyms, Signs: OPLAHD
OXOPROLINURIA DUE TO 5-OXOPROLINASE DEFICIENCY
Oxoprolinuria due to oxoprolinase deficiency
Number of Symptoms 11
OrphanetNr: 33572
OMIM Id: 260005
ICD-10: E72.8
UMLs: C0268525
MeSH: C535322
MedDRA:
Snomed: 26132002

Prevalence, inheritance and age of onset:

Prevalence: 8 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Disorder of the gamma-glutamyl cycle
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
(HPO:0003137) Prolinuria 4 / 7739
2
(HPO:0008672) Calcium oxalate nephrolithiasis 10 / 7739
3
(HPO:0002027) Abdominal pain 184 / 7739
4
(HPO:0002014) Diarrhea 225 / 7739
5
(HPO:0004387) Enterocolitis 7 / 7739
6
(HPO:0002013) Vomiting 191 / 7739
7
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
8
(OMIM) 5-oxoprolinase deficiency 1 / 7739
9
(HPO:0040142) 5-oxoprolinase deficiency 1 / 7739
10
(OMIM) Calcium oxalate/carbonate urolithiasis 1 / 7739
11
(OMIM) Excessive urinary 5-oxo-L-proline 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Clinical Description OMIM Larsson et al. (1981) reported the cases of 2 brothers, aged 16 and 11, who had enterocolitis and urolithiasis and exhibited excessive excretion of 5-oxo-L-proline. They had had recurrent episodes of vomiting, diarrhea, and abdominal pain, starting in ...
Molecular genetics OMIM In a 10-month-old Indian boy with 5-oxoprolinase deficiency, Almaghlouth et al. (2012) analyzed the candidate genes GSS and OPLAH and identified homozygosity for a 1-bp insertion in the OPLAH gene (614243.0001). His clinically unaffected sister was also homozygous ...