Causes and Symptoms of Metabolic Liver Disease
When a child presents with symptoms of metabolic liver disease , the correct diagnosis must be made with care. Symptoms may lack specificity, making diagnosis challenging. Laboratory tests may reveal abnormalities, such as elevated liver enzymes. A liver biopsy may be needed to confirm the diagnosis. These tests should be performed as early in the illness as possible. Table 32-4 lists the recommended screening tests for metabolic liver disease. Patients who develop cholestasis, jaundice, progressive neuromuscular disease, or regression of developmental milestones should be evaluated for metabolic liver disease. Ascites and hepatomegaly are additional symptoms. In addition, a liver biopsy can be performed to rule out other causes of the disease, detect storage diseases, and monitor the activity of specific enzymes. There are three primary metabolic liver diseases. Primary hyperoxaluria (AR) type 1 is characterized by systemic oxalate crystal deposition. This condition is caused by a liv...