Distinct clinical and genetic findings in iranian patients with glycogen storage disease type 3
Objectives: Glycogen storage disease type 3 (GSD-III) is a rare inherited metabolic disorder
caused by glycogen debranching enzyme deficiency. Various pathogenic mutations of the
AGL gene lead to abnormal accumulation of glycogen in liver, skeletal, and cardiac muscles.
Here, we report distinct clinical and genetic data of Iranian patients with GSD-III. Methods:
Clinical and laboratory data of 5 patients with GSD-III were recorded. Genetic investigation
was performed to identify the causative mutations. Results: Three patients had typical liver …
caused by glycogen debranching enzyme deficiency. Various pathogenic mutations of the
AGL gene lead to abnormal accumulation of glycogen in liver, skeletal, and cardiac muscles.
Here, we report distinct clinical and genetic data of Iranian patients with GSD-III. Methods:
Clinical and laboratory data of 5 patients with GSD-III were recorded. Genetic investigation
was performed to identify the causative mutations. Results: Three patients had typical liver …