Mutation analysis of 2 children with glycogen storage disease Ⅻ
Objective To investigate the clinical manifestations and gene mutation characteristics of patients with Glycogen storage disease Ⅻ(GSD Ⅻ).Methods A retrospective study was conducted on the clinical data of two patients with GSD Ⅻ admitted to the Tengzhou Maternal and Child Health Hospital,and the clinical symptoms and genetic charac-teristics of patients with GSD Ⅻ were summarised through genetic testing by targeted sequencing technology and literature review.Results Two patients were brothers,both with a history of neonatal asphyxia,with reduced muscle tone,recurrent elevated muscle enzyme levels,haemolytic anaemia in the neonatal period,and poorly treated anaemia.Case 1 was followed up to 5 years of age and presented with poor muscular endurance,delayed speech development,and worsening of the anaemia with fever with significant elevation of muscle enzymes.Case 2 was followed up to 8 months of age and no motor develop-mental delay was observed.The patient's genetic testing analyses resulted in a mutation in the ALDOA gene,c.619G＞A(p.Glu206Lys),and both parents were wild heterozygous.Conclusion Patients with GSD Ⅻ exhibit a relatively consistent set of symptoms,including myopathy and rhabdomyolysis,which usually manifests in the neonatal or early childhood period and may be accompanied by haemolysis or developmental disorders.
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