/glycogen storage disease due to muscle and heart glycogen synthase deficiency

glycogen storage disease due to muscle and heart glycogen synthase deficiency

Rare Disease

MONDO:0012693

Also Known As

GSD due to muscle and heart glycogen synthase deficiencyGSD type 0bglycogen storage disease due to glycogen synthase deficiency of heartglycogen storage disease type 0bglycogenosis due to muscle and heart glycogen synthase deficiencyglycogenosis type 0bheart glycogen storage disease due to glycogen synthase deficiencyGSD 0BGSD0Bglycogen storage disease 0, muscleglycogen storage disease type 0, musclemuscle glycogen storage disease 0muscle glycogen synthase deficiency

Definition

A glycogen storage disease characterized by muscle and heart glycogen deficiency. It has been described in three siblings (two brothers and their younger sister). The older brother died at 10.5 years of age as a result of sudden cardiac arrest and the younger brother presented with hypertrophic cardiomyopathy, abnormal heart rate and blood pressure during exercise, and muscle fatigability. The sister showed no symptoms but a lack of glycogen was identified through muscle biopsy. The syndrome is caused by homozygous missense mutations in the gene encoding muscle glycogen synthase.