Combined malonic and methylmalonic acidemia
ORPHA:289504DiseaseAutosomal dominant, Autosomal recessiveAll ages
Ассоциированные гены1
Фенотипы (HPO)26
Очень частый (80–99%)4
HP:0002912Methylmalonic acidemia
HP:0003215Dicarboxylic aciduria
HP:0012120Methylmalonic aciduria
HP:0040145Dicarboxylic acidemia
Частый (30–79%)1
HP:0001250Seizure
Периодический (5–29%)21
HP:0000252Microcephaly
HP:0000708Atypical behavior
HP:0000750Delayed speech and language development
HP:0001263Global developmental delay
HP:0001298Encephalopathy
HP:0001332Dystonia
HP:0001508Failure to thrive
HP:0001941Acidosis
HP:0001943Hypoglycemia
HP:0001944Dehydration
HP:0001993Ketoacidosis
HP:0002013Vomiting
HP:0002076Migraine
HP:0002254Intermittent diarrhea
HP:0002354Memory impairment
HP:0002384Focal impaired awareness seizure
HP:0002910Elevated circulating hepatic transaminase concentration
HP:0008936Axial hypotonia
HP:0011169Generalized clonic seizure
HP:0031064Impaired continence
HP:0040288Nasogastric tube feeding
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Annual incidence | 1-9 / 100 000 | 3.3 | United States | Value and class |
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)