Glycogen storage disease due to lactate dehydrogenase deficiency
ORPHA:2364DiseaseChildhood
Фенотипы (HPO)11
Очень частый (80–99%)3
HP:0002151Increased circulating lactate concentration
HP:0003236Elevated circulating creatine kinase concentration
HP:0003542Increased serum pyruvate
Частый (30–79%)6
HP:0000972Palmoplantar hyperkeratosis
HP:0002913Myoglobinuria
HP:0003326Myalgia
HP:0003394Muscle spasm
HP:0003552Muscle stiffness
HP:0009020Exercise-induced muscle fatigue
Периодический (5–29%)2
HP:0000083Renal insufficiency
HP:0003201Rhabdomyolysis
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)