Neonatal epileptic encephalopathy due to glutaminase deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
A rare genetic neurometabolic disease characterized by early neonatal refractory seizures, hypotonia, and respiratory failure. Brain imaging reveals simplified gyral pattern of the frontal lobes, white matter abnormalities, gliosis and volume loss in various brain regions, and vasogenic edema. Serum glutamine levels are significantly elevated. Death occurs within weeks after birth.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Neonatal epileptic encephalopathy due to glutaminase deficiency | |
| fr | Encéphalopathie épileptique néonatale par déficit en glutaminase | |
| de | Neonatale epileptische Enzephalopathie durch Glutaminase-Mangel | |
| es | Encefalopatía epiléptica neonatal por deficiencia de glutaminasa | |
| it | Encefalopatia epilettica neonatale da deficit di glutaminasi | |
| nl | Neonatale epileptische encefalopathie door glutaminasedeficiëntie | |
| pt | Encefalopatia epiléptica neonatal devido a deficiência de glutaminase | |
| pl | Encefalopatia padaczkowa noworodkowa z powodu niedoboru glutaminazy | |
| cs | Novorozenecká epileptická encefalopatie z glutaminázového deficitu | |
| uk | Неонатальна епілептична енцефалопатія, зумовлена дефіцитом глутамінази | |
| zh | 谷氨酰胺酶缺乏诱导的新生儿癫痫性脑病 | |
| tr | Glutaminaz eksikliğine bağlı yenidoğan epileptik ensefalopati |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 618328 | E | validated | |
| ICD-10 | E88.8 | NTBT | attributed | validated |
| ICD-11 | 5C50.Y | NTBT | attributed | validated |
| MONDO | 0032678 | E | validated | |
| UMLS | C5193030 | 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:225689Amino acid or protein metabolism disease with epilepsy
rare genetic diseases; rare neurological diseases - ORPHA:289841Disorder of glutamine metabolism
rare inborn errors of metabolism; rare genetic diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GLS | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:4331 | ENSG00000115419 | 138280 | 2q32.2 | glutaminase | 30575854[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 cases | Worldwide | Case(s) | Validated | 30575854[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_30575854[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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/557064
- This record as JSON: /data/d/557064.json