CLINICAL OBSERVATION OF A RARE FORM OF GLYCOGEN DISEASE TYPE IV

Abstract

Glycogen disease type IV (Andersen disease) is an autosomal recessive disease caused by a deficiency of amylo-1,4:1,6-glycosyltransferase enzyme (glycogen-branching enzyme) and accompanied with accumulation of glycogen with anomalous structure in different organs and tissues, including in liver and muscles. Difficulties in the diagnosis of glycogenosis disease type IV are related to the differential search between neuromuscular diseases, also clinical and genetic polymorphism of the disease. The article describes the results of clinical observation of a patient with glycogenosis type IV collected by authors. Furthermore, in this article the results of anamnestic information, inpatient medical cards, epicrisis, studies conducted, exon sequencing analysis and consultations were analyzed. The analysis of the conducted examination showed that, the severity of the patient’s condition is related to the lack of neuromuscular weakness, the symptoms of metabolic myopathy in the result of the accumulation of dextrin in the muscles. Thus, the provided clinical observation demonstrates the features of the course of glycogen disease type IV in a child, the importance of early diagnosis and appointment of the specialized medical care in time.