Glutaric acidemia type 3
Synonyms: Glutaric aciduria type 3 · Glutaryl-CoA oxidase deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- All ages
- Status
- active
A rare inborn error of metabolism characterized by abnormally high urinary excretion of glutaric acid due to peroxisomal glutaryl-CoA oxidase deficiency. There is no association with a specific clinical phenotype.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Glutaric acidemia type 3 | Glutaric aciduria type 3 · Glutaryl-CoA oxidase deficiency |
| fr | Acidémie glutarique type 3 | Acidurie glutarique type 3 · Déficit en glutaryl-CoA oxydase |
| de | Glutarazidurie Typ 3 | Glutarazidämie Typ 3 · Glutaryl-CoA-Oxidase-Mangel |
| es | Acidemia glutárica tipo 3 | Aciduria glutárica tipo 3 · Deficiencia de glutaril-CoA oxidasa |
| it | Acidemia glutarica, tipo 3 | Aciduria glutarica, tipo 3 · Deficit di glutaril-CoA ossidasi |
| nl | Glutaaracidemie type 3 | Glutaaracidurie type 3 · Glutaryl-CoA-oxidasedeficiëntie |
| pt | Deficiência de glutaril-CoA oxidase | Acidúria glutárica tipo 3 |
| pl | Kwasica glutarylowa typu 3 | Acyduria glutarowa typu 3 · Niedobór oksydazy glutarylo-CoA |
| cs | Glutarová acidémie typu 3 | Glutarová acidurie typu 3 · Deficit glutaryl-CoA oxidázy |
| uk | Глутарова ацидемія, тип 3 | Глутарова ацидурія типу 3 · Дефіцит глутарил-КоА-оксидази |
| zh | 戊二酸血症3型 | 戊二酰辅酶A氧化酶缺乏 |
| tr | Glutarik asidemi tip 3 | Glutarik asidüri tip 3 · Glutaryl-CoA oksidaz eksikliği |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 231690 | E | validated | |
| ICD-10 | E72.3 | NTBT | attributed | validated |
| ICD-11 | 5C50.E0 | NTBT | index | validated |
| MONDO | 0009283 | E | validated | |
| MeSH | C562818 | E | validated | |
| UMLS | C0342873 | E | validated | |
| GARD | 12469 | 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 (2):
- ORPHA:309810Disorder of peroxisomal alpha-, beta- and omega-oxidation
rare inborn errors of metabolism; rare genetic diseases; rare transplant-related disorders - ORPHA:225696Energy metabolism disorder with epilepsy
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SUGCT | Disease-causing germline mutation(s) in | Assessed | HGNC:16001 | ENSG00000175600 | 609187 | 7p14.1 | succinyl-CoA:glutarate-CoA transferase | 18926513[PMID] |
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
13 annotations · validated 2021-09-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0003150 | Glutaric aciduria | Diagnostic criterion |
| Very frequent (99-80%) | ||
| HP:0011021 | Abnormality of circulating enzyme level | |
| Occasional (29-5%) | ||
| HP:0002500 | Abnormal cerebral white matter morphology | |
| HP:0002518 | Abnormal periventricular white matter morphology | |
| HP:0001508 | Failure to thrive | |
| HP:0001263 | Global developmental delay | |
| HP:0003530 | Glutaric acidemia | |
| HP:0100710 | Impulsivity | |
| HP:0001993 | Ketoacidosis | |
| HP:0002919 | Ketonuria | |
| HP:0001254 | Lethargy | |
| HP:0000960 | Sacral dimple | |
| HP:0001328 | Specific learning disability | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 28766179[PMID]_32779420[PMID]_29421601[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/35706
- This record as JSON: /data/d/35706.json