ORPHA:25
Glutaryl-CoA dehydrogenase deficiency
Synonyms: GA1 · GCDHD · Glutaric acidemia type 1 · Glutaric aciduria type 1 · Glutaryl-coenzyme A dehydrogenase deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Glutaryl-CoA dehydrogenase (GCDH) deficiency (GDD) is an autosomal recessive neurometabolic disorder clinically characterized by encephalopathic crises resulting in striatal injury and a severe dystonic dyskinetic movement disorder.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Glutaryl-CoA dehydrogenase deficiency | GA1 · GCDHD · Glutaric acidemia type 1 · Glutaric aciduria type 1 · Glutaryl-coenzyme A dehydrogenase deficiency |
| fr | Déficit en glutaryl-CoA déshydrogénase | Acidurie glutarique type 1 · Acidémie glutarique type 1 · Déficit en glutaryl-coenzyme A déshydrogénase · GA1 · GCDHD |
| de | Glutaryl-CoA-Dehydrogenase-Mangel | GA1 · GCDHD · Glutarazidurie Typ 1 · Glutarazidämie Typ 1 · Glutaryl-Coenzym A -Dehydrogenase-Mangel |
| es | Deficiencia de glutaril-CoA deshidrogenasa | Acidemia glutárica tipo 1 · Aciduria glutárica tipo 1 · Deficiencia de glutaril coenzima A deshidrogenasa · GA1 · GCDHD |
| it | Deficit di glutaril-CoA deidrogenasi | Acidemia glutarica, tipo 1 · Aciduria glutarica, tipo 1 · Deficit di glutaril-Coenzima A deidrogenasi · GA1 · GCDHD |
| nl | Glutaryl-CoA-dehydrogenasedeficiëntie | GA1 · GCDHD · Glutaaracidemie type 1 · Glutaaracidurie type 1 · Glutaarzuuracidemie type 1 · Glutaarzuuracidurie type 1 · Glutaryl-CoA dehydrogenasedeficiëntie · Glutaryl-co-enzym A dehydrogenase-deficiëntie |
| pt | Deficiência de glutaril-CoA desidrogenase | Acidúria glutárica tipo 1 |
| pl | Niedobór dehydrogenazy glutarylo-CoA | Acyduria glutarowa typu 1 · GA1 · GCDHD · Kwasica glutarowa typu 1 · Niedobór dehydrogenazy glutarylo-koenzymu A |
| cs | Deficit glutaryl-CoA dehydrogenázy | GA1 · GCDHD · Glutarová acidémie, typ 1 · Glutarová acidurie, typ I · Deficit glutaryl-koenzym A dehydrogenázy |
| uk | Дефіцит глутарил-КоА-дегідрогенази | GA1 · GCDHD · Глутарова ацидемія типу 1 · Глутарова ацидурія типу 1 · Дефіцит глутарил-коензиму А дегідрогенази |
| zh | 戊二酰-辅酶A脱氢酶缺乏 | 戊二酰脱氢酶辅酶A缺乏 |
| tr | Glutaril-KoA dehidrogenaz eksikliği | GA1 · GCDHD · Glutarik asidemi tip 1 · Glutarik asidüri tip 1 · Glutaril-koenzim A dehidrojenaz eksikliği |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 231670 | E | validated | |
| ICD-10 | E72.3 | NTBT | inclusion | validated |
| ICD-11 | 5C50.E1 | NTBT | index | validated |
| MONDO | 0009281 | E | validated | |
| MeSH | C536833 | E | validated | |
| UMLS | C0268595 | E | validated | |
| GARD | 6522 | E | validated | |
| MedDRA | 10088192 | 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 (2):
- ORPHA:79158Cerebral organic aciduria
rare inborn errors of metabolism; rare genetic diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GCDH | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:4189 | ENSG00000105607 | 608801 | 19p13.13 | glutaryl-CoA dehydrogenase | 18775954[PMID] |
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Prevalence and incidence
10 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | >1 / 1000 | 333 / 100 000 | Specific population | Value and class | Validated | [EXPERT] |
| Point prevalence | 1-9 / 100 000 | 2 / 100 000 | Specific population | Value and class | Validated | [EXPERT] |
| Prevalence at birth | 1-9 / 100 000 | 1 / 100 000 | Worldwide | Value and class | Validated | 15505392[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 2.85 / 100 000 | Spain | Value and class | Validated | 22000754[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.48 / 100 000 | Japan | Value and class | Validated | 12127323[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.76 / 100 000 | United States | Value and class | Validated | 6601872[PMID] |
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
| Prevalence at birth | 1-9 / 1 000 000 | 0.56 / 100 000 | Czech Republic | Value and class | Validated | 31241292[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 2 / 100 000 | Israel | Value and class | Validated | 33239050[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 4.3 / 100 000 | Specific population | Value and class | Validated | 33239050[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.
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HPO phenotypes
43 annotations · validated 2020-06-04| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002134 | Abnormal basal ganglia morphology | |
| HP:0012379 | Abnormal enzyme/coenzyme activity | |
| HP:0003150 | Glutaric aciduria | |
| Frequent (79-30%) | ||
| HP:0002339 | Abnormal caudate nucleus morphology | |
| HP:0031982 | Abnormal putamen morphology | |
| HP:0002305 | Athetosis | |
| HP:0001334 | Communicating hydrocephalus | |
| HP:0001260 | Dysarthria | |
| HP:0002015 | Dysphagia | |
| HP:0001332 | Dystonia | |
| HP:0011968 | Feeding difficulties | |
| HP:0002315 | Headache | |
| HP:0040194 | Increased head circumference | |
| HP:0100954 | Open operculum | |
| HP:0007132 | Pallidal degeneration | |
| HP:0002275 | Poor motor coordination | |
| HP:0004481 | Progressive macrocephaly | |
| HP:0009716 | Subependymal nodules | |
| HP:0012753 | T2 hypointense basal ganglia | |
| HP:0012704 | Widened subarachnoid space | |
| Occasional (29-5%) | ||
| HP:0002500 | Abnormal cerebral white matter morphology | |
| HP:0002086 | Abnormality of the respiratory system | |
| HP:0001251 | Ataxia | |
| HP:0002072 | Chorea | |
| HP:0100543 | Cognitive impairment | |
| HP:0000726 | Dementia | |
| HP:0002376 | Developmental regression | |
| HP:0003546 | Exercise intolerance | |
| HP:0003162 | Fasting hypoglycemia | |
| HP:0012469 | Infantile spasms | |
| HP:0001373 | Joint dislocation | |
| HP:0002451 | Limb dystonia | |
| HP:0007185 | Loss of consciousness | |
| HP:0000573 | Retinal hemorrhage | |
| HP:0002063 | Rigidity | |
| HP:0001250 | Seizure | |
| HP:0006829 | Severe muscular hypotonia | |
| HP:0100309 | Subdural hemorrhage | |
| HP:0001337 | Tremor | |
| HP:0002119 | Ventriculomegaly | |
| HP:0002321 | Vertigo | |
| Very rare (<4-1%) | ||
| HP:0012622 | Chronic kidney disease | |
| HP:0009830 | Peripheral neuropathy | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 31536184[PMID]_12888985[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/25
- This record as JSON: /data/d/25.json