ORPHA:67046
3-methylglutaconic aciduria type 1
Synonyms: 3-methylglutaconyl-CoA hydratase deficiency · 3MG-CoA hydratase deficiency · MGA1
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
3-methylglutaconic aciduria (3-MGA) type I is an inborn error of leucine metabolism with a variable clinical phenotype ranging from mildly delayed speech to psychomotor retardation, coma, failure to thrive, metabolic acidosis and dystonia.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | 3-methylglutaconic aciduria type 1 | 3-methylglutaconyl-CoA hydratase deficiency · 3MG-CoA hydratase deficiency · MGA1 |
| fr | Acidurie 3-méthylglutaconique type 1 | AMG type I · Déficit en 3-méthylglutaconyl-CoA hydratase · Déficit en 3MG-CoA hydratase |
| de | 3-Methylglutaconazidurie Typ 1 | 3-Methylglutaconyl-CoA-Hydratase-Mangel · 3-Methylglutakon-Azidurie · 3MG-CoA-Hydratase-Mangel · MGA Typ I · MGA1 |
| es | Aciduria 3-metilglutacónica tipo 1 | Deficiencia de 3-metilglutaconil-CoA hidratasa · Deficiencia de 3MG-CoA hidratasa · MGA1 |
| it | Aciduria 3-metilglutaconica, tipo 1 | Deficit di 3-metilglutaconil-CoA idratasi · Deficit di 3MG-CoA idratasi · MGA1 |
| nl | 3-methylglutaconacidurie type 1 | Deficiëntie van 3-methylglutaconyl-CoA-hydratase · Deficiëntie van 3MG-CoA-hydratase · MGA1 |
| pt | Acidúria 3-metilglutacónica tipo 1 | Deficiência de 3-@metilglutaconil-coA hidratase · Deficiência de 3MG-coA hidratase · MGA tipo 1 |
| pl | Kwasica 3-metyloglutakonowa typu 1 | MGA typu 1 · Niedobór hydratazy 3-metyloglutakonylo-CoA · Niedobór hydratazy 3MG-CoA |
| cs | 3-methylglutakonová acidurie, typ 1 | Deficit 3-methylglutakonyl-CoA hydratázy · Deficit 3MG-CoA hydratázy · MGA1 |
| uk | 3-метилглутаконова ацидурія, тип 1 | Дефіцит 3-метилглутаконіл-КоА-гідратази · Дефіцит 3МГ-КоА-гідратази · MGA1 |
| zh | 3-甲基戊二酸尿症1型 | 3-甲基戊烯二酰-CoA水合酶缺乏症 |
| tr | 3-metilglutakonik asidüri tip 1 | MGA1 · 3MG-CoA hidrataz eksikliği · 3-metilglutakonil-CoA hidrataz eksikliği |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 250950 | E | validated | |
| ICD-10 | E71.1 | NTBT | attributed | validated |
| ICD-11 | 5C50.E0 | NTBT | index | validated |
| MONDO | 0009610 | E | validated | |
| MeSH | C562801 | E | validated | |
| UMLS | C0342727 | E | validated | |
| GARD | 10321 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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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.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| AUH | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:890 | ENSG00000148090 | 600529 | 9q22.31 | AU RNA binding methylglutaconyl-CoA hydratase | 12434311[PMID]_12655555[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 20 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.
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HPO phenotypes
13 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003535 | 3-Methylglutaconic aciduria | |
| HP:0001508 | Failure to thrive | |
| Frequent (79-30%) | ||
| HP:0000750 | Delayed speech and language development | |
| HP:0001263 | Global developmental delay | |
| Occasional (29-5%) | ||
| HP:0002134 | Abnormal basal ganglia morphology | |
| HP:0001259 | Coma | |
| HP:0001332 | Dystonia | |
| HP:0002240 | Hepatomegaly | |
| HP:0001943 | Hypoglycemia | |
| HP:0000252 | Microcephaly | |
| HP:0002073 | Progressive cerebellar ataxia | |
| HP:0001250 | Seizure | |
| HP:0001285 | Spastic tetraparesis | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 20855850[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/67046
- This record as JSON: /data/d/67046.json