Hyperammonemia due to N-acetylglutamate synthase deficiency
Synonyms: NAGS deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- All ages
- Status
- active
A rare disorder of urea cycle metabolism causing a deficit of ammonia detoxification and arginine synthesis, and characterized by hyperammonemia of variable severity. Manifestations range from neonatal presentation of poor feeding, vomiting, lethargy, tachypnea, convulsions and coma to adult-onset headaches, hazy gastrointestinal symptoms, seizures, behavioral/psychiatric problems, confusion and lethargy.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hyperammonemia due to N-acetylglutamate synthase deficiency | NAGS deficiency |
| fr | Hyperammoniémie par déficit en N-acétylglutamate synthase | Déficit en NAGS |
| de | Hyperammonämie durch N-Acetylglutamat-Synthetase-Mangel | NAGS-Mangel |
| es | Hiperamonemia por deficiencia de N-acetilglutamato sintasa | Deficiencia de NAGS |
| it | Iperammoniemia da deficit di N-acetilglutammato sintasi | Deficit di NAGS |
| nl | Hyperammoniëmie door deficiëntie van N-acetylglutamaatsynthetase | NAGS-deficiëntie |
| pt | Hiperamoniemia devida a deficiência de N-acetilglutamato sintetase | Deficiência de N-acetilglutamato sintetase |
| pl | Hiperammonemia spowodowana niedoborem syntetazy N-acetyloglutaminowej | Niedobór NAGS |
| cs | Hyperamonémie způsobená deficitem N-acetylglutamát syntázy | NAGS deficit |
| uk | Гіперамоніємія внаслідок дефіциту N-ацетилглутаматсинтази | Дефіцит NAGS |
| zh | N-乙酰谷氨酸合成酶缺乏所致高氨血症 | NAGS缺乏症 |
| tr | N-asetilglutamat sentaz eksikliğine bağlı hiperamonyemi | NAGS eksikliği |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 237310 | E | validated | |
| ICD-10 | E72.2 | NTBT | attributed | validated |
| ICD-11 | 5C50.AY | NTBT | index | validated |
| MONDO | 0009377 | E | validated | |
| MeSH | C536109 | E | validated | |
| UMLS | C0268543 | E | validated | |
| GARD | 7158 | E | validated | |
| MedDRA | 10071092 | 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 (3):
- ORPHA:79167Disorder of urea cycle metabolism and ammonia detoxification
rare inborn errors of metabolism; rare genetic diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| NAGS | Disease-causing germline mutation(s) in | Assessed | HGNC:17996 | ENSG00000161653 | 608300 | 17q21.31 | N-acetylglutamate synthase | 20301316[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Europe | Class only | Validated | ORPHANET |
| Cases/families | 99 cases | Worldwide | Case(s) | Validated | 33036647[PMID]_33231058[PMID] |
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
42 annotations · validated 2019-04-25| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001987 | Hyperammonemia | |
| Frequent (79-30%) | ||
| HP:0008947 | Floppy infant | |
| HP:0002018 | Nausea | |
| HP:0002013 | Vomiting | |
| Occasional (29-5%) | ||
| HP:0008281 | Acute hyperammonemia | |
| HP:0000713 | Agitation | |
| HP:0000739 | Anxiety | |
| HP:0100543 | Cognitive impairment | |
| HP:0001259 | Coma | |
| HP:0001289 | Confusion | |
| HP:0002329 | Drowsiness | |
| HP:0000712 | Emotional lability | |
| HP:0001508 | Failure to thrive | |
| HP:0012378 | Fatigue | |
| HP:0011968 | Feeding difficulties | |
| HP:0001263 | Global developmental delay | |
| HP:0002315 | Headache | |
| HP:0003348 | Hyperalaninemia | |
| HP:0003217 | Hyperglutaminemia | |
| HP:0100785 | Insomnia | |
| HP:0001254 | Lethargy | |
| HP:0007185 | Loss of consciousness | |
| HP:0004396 | Poor appetite | |
| HP:0002465 | Poor speech | |
| HP:0001250 | Seizure | |
| Very rare (<4-1%) | ||
| HP:0000733 | Abnormal repetitive mannerisms | |
| HP:0001251 | Ataxia | |
| HP:0000708 | Atypical behavior | |
| HP:0002637 | Cerebral ischemia | |
| HP:0031258 | Delirium | |
| HP:0002014 | Diarrhea | |
| HP:0010529 | Echolalia | |
| HP:0001298 | Encephalopathy | |
| HP:0002240 | Hepatomegaly | |
| HP:0000252 | Microcephaly | |
| HP:0002863 | Myelodysplasia | |
| HP:0010550 | Paraplegia | |
| HP:0001271 | Polyneuropathy | |
| HP:0000725 | Psychotic episodes | |
| HP:0002098 | Respiratory distress | |
| HP:0006582 | Reye syndrome-like episodes | |
| HP:0001297 | Stroke | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 29364180[PMID]_30337552[PMID]_27147233[PMID]_27570737[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/927
- This record as JSON: /data/d/927.json