16. Alpha1-antitrypsin Deficiency - High Power
In alpha1-antitrypsin deficiency, alpha1-antitrypsin accumulates in the cytoplasm of hepatocytes. Due to an inherited metabolic defect, the protein is not secreted and thus accumulates in hepatocytes. This is apparent as eosinophilic, globular material in the cytoplasm of hepatocytes, which is PAS positive in a PAS stained section such as in this image. What is the genetic abnormality present in patients with alpha1-antitrypsin deficiency? Answer

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