Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
ORPHA:70472DiseaseAutosomal recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)45
Очень частый (80–99%)10
HP:0001252Hypotonia
HP:0001263Global developmental delay
HP:0001508Failure to thrive
HP:0001942Metabolic acidosis
HP:0002151Increased circulating lactate concentration
HP:0002401Stroke-like episode
HP:0002490Increased CSF lactate
HP:0003128Lactic acidosis
HP:0008347Decreased activity of mitochondrial complex IV
HP:0012379Abnormal enzyme/coenzyme activity
Частый (30–79%)18
HP:0001250Seizure
HP:0001251Ataxia
HP:0001257Spasticity
HP:0001324Muscle weakness
HP:0001397Hepatic steatosis
HP:0001410Decreased liver function
HP:0001639Hypertrophic cardiomyopathy
HP:0002072Chorea
HP:0002344Progressive neurologic deterioration
HP:0002376Developmental regression
HP:0002465Poor speech
HP:0002540Inability to walk
HP:0003688Cytochrome C oxidase-negative muscle fibers
HP:0007183Focal T2 hyperintense basal ganglia lesion
HP:0009830Peripheral neuropathy
HP:0010841Multifocal epileptiform discharges
HP:0011203EEG with abnormally slow frequencies
HP:0100022Abnormality of movement
Периодический (5–29%)17
HP:0000248Brachycephaly
HP:0001290Generalized hypotonia
HP:0001627Abnormal heart morphology
HP:0001635Congestive heart failure
HP:0001999Abnormal facial shape
HP:0002015Dysphagia
HP:0002020Gastroesophageal reflux
HP:0002060Abnormal cerebral morphology
HP:0002310Orofacial dyskinesia
HP:0002870Obstructive sleep apnea
HP:0002878Respiratory failure
HP:0005599Hypopigmentation of hair
HP:0007325Generalized dystonia
HP:0010536Central sleep apnea
HP:0011471Gastrostomy tube feeding in infancy
HP:0012243Abnormal reproductive system morphology
HP:0100660Dyskinesia
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)