Glycogen storage disease (GSD) type 3 (Forbes disease) is an autosomal recessive inborn error of metabolism caused by loss of function mutations of the glycogen debranching enzyme (Amylo- 1, 6-glucosidase [AGL]) and (oligo-1,4-1,4-glucanotransferase) gene, which is located at chromosome band 1p21.2. GSD 3 is characterized by the storage of structurally abnormal glycogen, termed limit dextrin, in both skeletal and cardiac muscle and/or liver, with great variability in resultant organ dysfunction. Here we describe a 16 year- old boy diagnosed as a case of epilepsy at the ageof 8.

 

 

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