ORPHA:33572
5-oxoprolinase deficiency
Synonyms: Oxoprolinuria due to oxoprolinase deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy, Neonatal
- Status
- active
A very heterogeneous condition characterized by 5-oxoprolinuria.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | 5-oxoprolinase deficiency | Oxoprolinuria due to oxoprolinase deficiency |
| fr | Déficit en 5-oxoprolinase | Oxoprolinurie par déficit en oxoprolinase |
| de | 5-Oxoprolinase-Mangel | Oxoprolinurie durch Oxoprolinase-Mangel |
| es | Deficiencia de 5-oxoprolinasa | Oxoprolinuria por deficiencia de oxoprolinasa |
| it | Deficit di 5-oxoprolinasi | Oxoprolinuria da deficit di oxoprolinasi |
| nl | Deficiëntie van 5-oxoprolinase | Oxoprolinurie door deficiëntie van oxoprolinase |
| pt | Deficiência de 5-oxoprolinase | |
| pl | Niedobór 5-oligoprolinazy | Oksoprolinuria spowodowana niedoborem oksoprolinazy |
| cs | Deficit 5-oxoprolinázy | Oxoprolinurie způsobená deficitem oxoprolinázy |
| uk | Дефіцит 5-оксопролінази | Оксопролінурія внаслідок дефіциту оксопролінази |
| zh | 5-氧脯氨酸酶缺乏 | 氧脯氨酸酶缺乏所致氧脯氨酸尿症 |
| tr | 5-oksoprolinaz eksikliği | Oksoprolinaz eksikliğine bağlı oksoprolinüri |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 260005 | E | validated | |
| ICD-10 | E72.8 | NTBT | attributed | validated |
| ICD-11 | 5C50.5 | NTBT | index | validated |
| MONDO | 0009825 | E | validated | |
| MeSH | C535322 | E | validated | |
| UMLS | C0268525 | E | validated | |
| GARD | 5681 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:79196Disorder of the gamma-glutamyl cycle
rare inborn errors of metabolism; rare genetic diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| OPLAH | Disease-causing germline mutation(s) in | Assessed | HGNC:8149 | ENSG00000178814 | 614243 | 8q24.3 | 5-oxoprolinase, ATP-hydrolysing | 21651516[PMID]_27477828[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 8 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
19 annotations · validated 2025-07-10| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0410132 | Increased level of L-pyroglutamic acid in urine | |
| HP:0040142 | Reduced circulating 5-oxoprolinase activity | |
| Frequent (79-30%) | ||
| HP:0001263 | Global developmental delay | |
| Occasional (29-5%) | ||
| HP:0002059 | Cerebral atrophy | |
| HP:0000750 | Delayed speech and language development | |
| HP:0004387 | Enterocolitis | |
| HP:0001508 | Failure to thrive | |
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0008947 | Floppy infant | |
| HP:0100786 | Hypersomnia | |
| HP:0001943 | Hypoglycemia | |
| HP:0001252 | Hypotonia | |
| HP:0000952 | Jaundice | |
| HP:0001942 | Metabolic acidosis | |
| HP:0000252 | Microcephaly | |
| HP:0000787 | Nephrolithiasis | |
| HP:0005490 | Postnatal macrocephaly | |
| HP:0001250 | Seizure | |
| HP:0000486 | Strabismus | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 25851806[PMID]_27477828[PMID]_39129838[PMID]_17397529[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/33572
- This record as JSON: /data/d/33572.json