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Glycogen storage disease due to muscle and heart glycogen synthase deficiency

Orpha number ORPHA137625
Synonym(s) GSD due to muscle and heart glycogen synthase deficiency
GSD type 0b
Glycogen storage disease type 0b
Glycogenosis due to muscle and heart glycogen synthase deficiency
Glycogenosis type 0b
Prevalence <1 / 1 000 000
Inheritance
  • Sporadic
Age of onset Childhood
ICD-10
  • E74.0
OMIM
UMLS -
MeSH -
MedDRA -
SNOMED CT -

Summary

This syndrome is characterised 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.


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