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Background  Glycogen Storage Disease Type III (GSD III) is a rare autosomal recessive metabolic disorder caused by  AGL  gene mutation. There is significant heterogeneity between the clinical manifestations and the gene mutation of  AGL  among different ethnic groups. However, GSD III is rarely reported in Chinese population.    Case presentation  In this study, we aimed to study the genetic and clinical characteristics of four patients with GSD IIIa from China, especially the neurological manifestations. Meanwhile, we conducted a literature review of GSD IIIa cases reported in Chinese population to investigate the relationship between genotype and phenotype.    Conclusions  Three different  AGL  gene mutations were identified in our patients: c.206dupA, c.1735 + 1G > T and c.2590 C>T. Moreover, progressive myopathy accompanied by elevated creatine kinase level was the main manifestation of our patients in adolescents. Our results showed that  AGL  c.206dupA was a novel mutation and caused severe clinical manifestations.  AGL  c.1735 + 1G > T might be a recurrent mutation in the Chinese population. Genetic analysis of  AGL  gene mutation combined with muscle magnetic resonance imaging (MRI) might provide greater benefit to the patient in diagnosing GSD IIIa, rather than an invasive diagnostic procedure of biopsy.    Electronic supplementary material  The online version of this article (10.1186/s12881-018-0560-6) contains supplementary material, which is available to authorized users.

Genetic analysis and clinical assessment of four patients with Glycogen Storage Disease Type IIIa in China