D,L-2-hydroxyglutaric aciduria
Synonyms: D,L-2-hydroxyglutaric acidemia · Combined D-2-hydroxyglutaric acidemia and L-2-hydroxyglutaric acidemia · Combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria · D,L-2-HGA
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare inborn error of metabolism characterized by severe neonatal epileptic encephalopathy, episodes of apnea and respiratory distress, severe global developmental delay or absent psychomotor development, severe muscular hypotonia or absent voluntary movements, feeding difficulties and failure to thrive, absence of visual contact, abnormal brain morphology (including cerebral atrophy, ventriculomegaly and hypoplasia or dysplasia of the corpus callosum), mild dysmorphic features (frontal bossing, hypertelorism, downslanting palpebral fissures, flat nasal bridge), elevated CSF and plasma lactate and urinary Krebs cycle metabolites.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | D,L-2-hydroxyglutaric aciduria | D,L-2-hydroxyglutaric acidemia · Combined D-2-hydroxyglutaric acidemia and L-2-hydroxyglutaric acidemia · Combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria · D,L-2-HGA |
| fr | Acidurie D,L-2-hydroxyglutarique | Acidurie combinée D-2-hydroxyglutarique et L-2-hydroxyglutarique · Acidémie D,L-2-hydroxyglutarique · Acidémie combinée D-2-hydroxyglutarique et L-2-hydroxyglutarique · D,L-2-HGA |
| de | D,L-2-Hydroxy-Glutarazidurie | D,L-2-HGA · D,L-2-Hydroxyglutarazidämie · D-2-Hydroxyglutarazidurie und L-2-Hydroxyglutarazidurie, kombiniert · D-2-Hydroxyglutarazidämie und L-2-Hydroxyglutarazidämie, kombiniert |
| es | Aciduria D,L-2-hidroxiglutárica | Acidemia D,L-2-hidroxiglutárica · Acidemia D-2-hidroxiglutárica y acidemia L-2-hidroxiglutárica combinada · Aciduria D-2-hidroxiglutárica y aciduria L-2-hidroxiglutárica combinada · D,L-2-HGA |
| it | Aciduria D,L-2-idrossiglutarica | Acidemia D,L-2-idrossiglutarica · Acidemia combinata D-2-idrossiglutarica e L-2-idrossiglutarica · Aciduria combinata D-2-idrossiglutarica e L-2-idrossiglutarica · D,L-2-HGA |
| nl | D,L-2-hydroxyglutaaracidurie | D,L-2-HGA · D,L-2-hydroxyglutaaracidemie · Gecombineerde D-2-hydroxyglutaaracidemie en L-2-hydroxyglutaaracidemie · Gecombineerde D-2-hydroxyglutaaracidurie en L-2-hydroxyglutaaracidurie |
| pt | Acidúria hidroxiglutáricaD,L - 2 | |
| pl | Acyduria D,L-2-hydroksyglutarowa | D,L-2-HGA · Kwasica D,L-2-hydroksyglutarowa · Złożona acyduria D-2-hydroksyglutarowa i L-2-hydroksyglutarowa · Złożona kwasica D-2-hydroksyglutarowa i L-2-hydroksyglutarowa |
| cs | D,L-2-hydroxyglutarová acidurie | Kombinovaná D-2-hydroxyglutarová acidemie a L-2-hydroxyglutarová acidemie · Kombinovaná D-2-hydroxyglutarová acidurie a L-2-hydroxyglutarová acidurie · D,L-2-HGA · D,L-2-hydroxyglutarová acidemie |
| uk | D,L-2-гідроксиглутарова ацидурія | Поєднання D-2-гідроксиглутарової та L-2-гідроксиглутарової ацидемії · Поєднання D-2-гідроксиглутарової та L-2-гідроксиглутарової ацидурії · D,L-2-HGA · D,L-2-гідроксиглутарова ацидемія |
| zh | 2-羟基戊二酸尿症（D型和L型复合型） | D-2-羟基戊二酸尿症和L-2-羟基戊二酸尿症 |
| tr | D, L-2-hidroksiglutarik asidüri | D,L-2-HGA · D, L-2-hidroksiglutarik asidemi · Kombine D-2-hidroksiglutarik asidemi ve L-2-hidroksiglutarik asidemi · Kombine D-2-hidroksiglutarik asidüri ve L-2-hidroksiglutarik asidüri |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615182 | E | validated | |
| ICD-10 | E72.8 | NTBT | attributed | validated |
| ICD-11 | 5C50.E1 | NTBT | attributed | validated |
| MONDO | 0014072 | E | validated | |
| UMLS | C5574940 | 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 (1):
- ORPHA:192-hydroxyglutaric aciduria
rare inborn errors of metabolism; rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SLC25A1 | Disease-causing germline mutation(s) in | Assessed | HGNC:10979 | ENSG00000100075 | 190315 | 22q11.21 | solute carrier family 25 member 1 | 23561848[PMID]_23393310[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 13 cases | Worldwide | Case(s) | Validated | 23561848[PMID] | |
| 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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/356978
- This record as JSON: /data/d/356978.json