Vitamin B12-unresponsive methylmalonic acidemia type mut-
ORPHA:79312Clinical subtypeAutosomal recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)29
Очень частый (80–99%)7
HP:0001254Lethargy
HP:0001259Coma
HP:0001508Failure to thrive
HP:0001944Dehydration
HP:0001987Hyperammonemia
HP:0002039Anorexia
HP:0002098Respiratory distress
Частый (30–79%)9
HP:0001249Intellectual disability
HP:0001252Hypotonia
HP:0001260Dysarthria
HP:0001263Global developmental delay
HP:0001332Dystonia
HP:0001744Splenomegaly
HP:0002017Nausea and vomiting
HP:0002721Immunodeficiency
HP:0011968Feeding difficulties
Периодический (5–29%)13
HP:0000083Renal insufficiency
HP:0000648Optic atrophy
HP:0001250Seizure
HP:0001266Choreoathetosis
HP:0001297Stroke
HP:0001638Cardiomyopathy
HP:0001733Pancreatitis
HP:0001873Thrombocytopenia
HP:0001875Decreased total neutrophil count
HP:0001903Anemia
HP:0002027Abdominal pain
HP:0002240Hepatomegaly
HP:0100022Abnormality of movement
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 450 | Worldwide | Case(s) |
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)