Glutaryl-CoA dehydrogenase deficiency
ORPHA:25DiseaseAutosomal recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)43
Очень частый (80–99%)3
HP:0002134Abnormality of the basal ganglia
HP:0003150Glutaric aciduria
HP:0012379Abnormal enzyme/coenzyme activity
Частый (30–79%)17
HP:0001260Dysarthria
HP:0001332Dystonia
HP:0001334Communicating hydrocephalus
HP:0002015Dysphagia
HP:0002275Poor motor coordination
HP:0002305Athetosis
HP:0002315Headache
HP:0002339Abnormal caudate nucleus morphology
HP:0004481Progressive macrocephaly
HP:0007132Pallidal degeneration
HP:0009716Subependymal nodules
HP:0011968Feeding difficulties
HP:0012704Widened subarachnoid space
HP:0012753T2 hypointense basal ganglia
HP:0031982Abnormal putamen morphology
HP:0040194Increased head circumference
HP:0100954Open operculum
Периодический (5–29%)21
HP:0000573Retinal hemorrhage
HP:0000726Dementia
HP:0001250Seizure
HP:0001251Ataxia
HP:0001337Tremor
HP:0001373Joint dislocation
HP:0002063Rigidity
HP:0002072Chorea
HP:0002086Abnormality of the respiratory system
HP:0002119Ventriculomegaly
HP:0002321Vertigo
HP:0002376Developmental regression
HP:0002451Limb dystonia
HP:0002500Abnormal cerebral white matter morphology
HP:0003162Fasting hypoglycemia
HP:0003546Exercise intolerance
HP:0006829Severe muscular hypotonia
HP:0007185Loss of consciousness
HP:0012469Infantile spasms
HP:0100309Subdural hemorrhage
HP:0100543Cognitive impairment
Очень редкий (1–4%)2
HP:0009830Peripheral neuropathy
HP:0012622Chronic kidney disease
Эпидемиология10
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | >1 / 1000 | 333 | Specific population | Value and class |
| Point prevalence | 1-9 / 100 000 | 2 | Specific population | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 1 | Worldwide | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 2.85 | Spain | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.48 | Japan | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.76 | United States | Value and class |
| Point prevalence | Unknown | — | Worldwide | Class only |
| Prevalence at birth | 1-9 / 100 000 | 2 | Israel | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 4.3 | Specific population | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.56 | Czech Republic | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)