Болезнь накопления гликогена вследствие недостаточности кислой мальтазы, с дебютом в младенческом возрасте
Определение
Glycogen storage disease due to acid maltase deficiency, infantile onset is the most severe form of glycogen storage disease due to acid maltase deficiency, characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties. It is often fatal.