D-glyceric aciduria
ORPHA:941DiseaseAutosomal recessiveAll ages
Ассоциированные гены1
Фенотипы (HPO)26
Очень частый (80–99%)3
HP:0001942Metabolic acidosis
HP:0002448Progressive encephalopathy
HP:0012379Abnormal enzyme/coenzyme activity
Частый (30–79%)11
HP:0000252Microcephaly
HP:0000750Delayed speech and language development
HP:0001249Intellectual disability
HP:0001250Seizure
HP:0001257Spasticity
HP:0001263Global developmental delay
HP:0002154Hyperglycinemia
HP:0003108Hyperglycinuria
HP:0008947Floppy infant
HP:0030781Increased circulating free fatty acid level
HP:0500230Increased CSF glycine concentration
Периодический (5–29%)12
HP:0007185Loss of consciousness
HP:0008288Nonketotic hyperglycinemia
HP:0011344Severe global developmental delay
HP:0012444Brain atrophy
HP:0012736Profound global developmental delay
HP:0100704Cerebral visual impairment
HP:0000253Progressive microcephaly
HP:0000365Hearing impairment
HP:0000729Autistic behavior
HP:0001336Myoclonus
HP:0002072Chorea
HP:0002079Hypoplasia of the corpus callosum
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)