Pyruvate dehydrogenase E3 deficiency
ORPHA:2394Clinical subtypeAutosomal recessiveChildhood
Ассоциированные гены1
Фенотипы (HPO)28
Очень частый (80–99%)5
HP:0001290Generalized hypotonia
HP:0002013Vomiting
HP:0002151Increased circulating lactate concentration
HP:0003128Lactic acidosis
HP:0012758Neurodevelopmental delay
Частый (30–79%)11
HP:0001250Seizure
HP:0001254Lethargy
HP:0001257Spasticity
HP:0001943Hypoglycemia
HP:0002240Hepatomegaly
HP:0002480Hepatic encephalopathy
HP:0002910Elevated circulating hepatic transaminase concentration
HP:0008344Elevated plasma branched chain amino acids
HP:0011968Feeding difficulties
HP:0012402Increased urine alpha-ketoglutarate concentration
HP:0100724Hypercoagulability
Периодический (5–29%)12
HP:0000252Microcephaly
HP:0000708Atypical behavior
HP:0001251Ataxia
HP:0001399Hepatic failure
HP:0001508Failure to thrive
HP:0001638Cardiomyopathy
HP:0001987Hyperammonemia
HP:0003234Decreased circulating carnitine concentration
HP:0003394Muscle spasm
HP:0007663Reduced visual acuity
HP:0010913Hyperisoleucinemia
HP:0030872Abnormal cardiac ventricular function
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 20 | 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)