Final answer:
Von Gierke's disease, or GSD I, leads to the liver's appearance being enlarged and dense due to the accumulation of glycogen. Hepatomegaly and impaired liver function are common, and there is a risk of cirrhosis and hepatocellular carcinoma with long-term complications.
Step-by-step explanation:
In Von Gierke's disease, also known as glycogen storage disease type I (GSD I), the liver's appearance is distinct and typically enlarged due to the accumulation of glycogen. This condition is the result of a deficiency in the enzyme glucose-6-phosphatase, which is vital for the final steps of gluconeogenesis and glycogenolysis. Without this enzyme, the liver cannot properly convert glycogen into glucose, leading to an abnormal buildup of glycogen within the liver cells.
Von Gierke's disease can cause hepatomegaly, which is a visible and palpable enlargement of the liver. Upon imaging, the liver has increased density on ultrasound or CT scan due to excessive glycogen storage. Moreover, the liver texture may be described as 'foamy' or 'fatty' when viewed under a microscope due to glycogen accumulation within hepatocytes.
Aside from hepatomegaly, individuals with Von Gierke's disease may experience symptoms associated with impaired liver function. These can include hypoglycemia, lactic acidosis, hyperlipidemia, and hyperuricemia. Hepatocellular damage also manifests itself in the form of abnormal liver enzyme levels, which are often found during routine blood tests.
Long-term complications of Von Gierke's disease can include liver cirrhosis and an increased risk of hepatocellular carcinoma (HCC). This is due to the ongoing damage and regeneration of liver tissue that occurs as a consequence of the disease's pathological processes.