Citrullinemia
- Type
- Category
- Group
- Group of disorders
- Inheritance
- Autosomal recessive
- Age of onset
- Adult, Neonatal
- Status
- active
Citrullinemia is an autosomal recessively inherited disorder of urea cycle metabolism and ammonia detoxification characterized by elevated concentrations of serum citrulline and ammonia. The disease presents with a large range of manifestations including neonatal hyperammonemic encephalopathy with lethargy, seizures and coma; hepatic dysfunction in all age groups; episodes of hyperammonemia and neuropsychiatric symptoms in children or adults, or, can be asymptomatic in some cases (detected in newborn screening programs). Citrullinemia is divided into two main groups that are encoded by different genes: citrullinemia type I (comprised of acute neonatal citrullinemia type I and adult-onset citrullinemia type I) and citrin deficiency (comprised of adult-onset citrullinemia type II and neonatal intrahepatic cholestasis due to citrin deficiency).
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Citrullinemia | |
| fr | Citrullinémie | |
| de | Zitrullinämie | Arginino-Succinat-Synthetase-Mangel · Citrullinämie |
| es | Citrulinemia | |
| it | Citrullinemia | |
| nl | Citrullinemie | |
| pt | Citrulinemia | Deficiência de argininossuccinato sintetase |
| pl | Cytrulinemia | |
| cs | Citrulinémie | |
| uk | Цитрулінемія | |
| zh | 瓜氨酸血症 | |
| tr | Sitrülinemi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-11 | 5C50.A3 | E | specific | validated |
| MONDO | 0015991 | E | validated | |
| MONDO | 15991 | E | validated | |
| MeSH | D020159 | E | validated | |
| UMLS | C0175683 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:79167Disorder of urea cycle metabolism and ammonia detoxification
rare inborn errors of metabolism; rare genetic diseases
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet 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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/187
- This record as JSON: /data/d/187.json