Glycogen Storage Disease Type IV: A Case Report

Abstract   Glycogen storage disease type IV (GSD-IV) “Andersen’s disease” is an autosomal recessive disorder due to a deficiency of glycogen branching enzyme (GBE). We report a four years old female patient with glycogen storage disease type-IV who exhibited an abdominal distension and failure to thrive since the age of 9 months. The patient showed hepatosplenomegaly and hypotonia of both upper and lower limbs proximally. The laboratory findings showed fasting hypoglycemia, raised liver enzymes, moderate hypochromic microcytic anemia, hyperlactatemia with raised total creatine phosphokinase & lactate dehydrogenase. The light microscopic findings of the liver biopsy specimen were consistent with GSD-IV. This study focuses on evaluation of the detailed clinical, biochemical and histopathological findings that found in a pediatric patient with GSD-IV.[Full Text: PDF]

 

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