3-methylglutaconic aciduria type 9
ORPHA:505216DiseaseAutosomal recessiveInfancy
Ассоциированные гены1
Фенотипы (HPO)25
Очень частый (80–99%)18
HP:0000718Aggressive behavior
HP:0001252Hypotonia
HP:0001298Encephalopathy
HP:0001324Muscle weakness
HP:0001508Failure to thrive
HP:0001533Slender build
HP:0002059Cerebral atrophy
HP:0002133Status epilepticus
HP:0002151Increased circulating lactate concentration
HP:0002167Abnormality of speech or vocalization
HP:0002169Clonus
HP:0002194Delayed gross motor development
HP:0002353EEG abnormality
HP:00035353-Methylglutaconic aciduria
HP:0007204Diffuse white matter abnormalities
HP:0010864Intellectual disability, severe
HP:0011925Decreased activity of mitochondrial ATP synthase complex
HP:0031936Delayed ability to walk
Периодический (5–29%)7
HP:0000020Urinary incontinence
HP:0000648Optic atrophy
HP:0001250Seizure
HP:0001257Spasticity
HP:0001344Absent speech
HP:0001347Hyperreflexia
HP:0002521Hypsarrhythmia
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 4 | Worldwide | Case(s) |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)