3-methylglutaconic aciduria type 8
Synonyms: MGA8
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
A rare organic aciduria characterized by neonatal onset of hypotonia, recurrent apneic episodes, lack of psychomotor development, feeding difficulties, extrapyramidal signs, and seizures. Other reported features include microcephaly, sensorineural deafness, bradycardia, and neutropenia. Laboratory studies show increased serum lactate and urinary excretion of 3-methylglutaconic acid. Brain imaging may reveal progressive cerebral atrophy. The disease is lethal in infancy.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | 3-methylglutaconic aciduria type 8 | MGA8 |
| fr | Acidurie 3-méthylglutaconique type 8 | AMG8 · MGA8 |
| de | 3-Methylglutaconazidurie Typ 8 | = en |
| es | Aciduria 3-metilglutacónica tipo 8 | = en |
| it | Aciduria 3-metilglutaconica tipo 8 | |
| nl | 3-methylglutaconacidurie type 8 | = en |
| pt | Acidúria 3-metilglutacónica tipo 8 | |
| pl | Kwasica 3-metyloglutakonowa typ 8 | = en |
| cs | 3-metylglutakonová acidurie, typ 8 | = en |
| uk | 3-метилглутаконова ацидурія, тип 8 | = en |
| zh | 3-甲基戊二酸尿症8型 | = en |
| tr | 3-metilglutakonik asidüri tip 8 | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 617248 | E | validated | |
| ICD-10 | E71.1 | NTBT | attributed | validated |
| ICD-11 | 5C50.E0 | NTBT | attributed | validated |
| MONDO | 0044723 | E | validated | |
| UMLS | C5680084 | 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:2899023-methylglutaconic aciduria
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 |
|---|---|---|---|---|---|---|---|---|
| HTRA2 | Disease-causing germline mutation(s) in | Assessed | HGNC:14348 | ENSG00000115317 | 606441 | 2p13.1 | HtrA serine peptidase 2 | 27208207[PMID]_27696117[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 9 cases | Worldwide | Case(s) | Validated | 27208207[PMID]_27696117[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_27208207[PMID]_27696117[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/505208
- This record as JSON: /data/d/505208.json