CAH is caused by the pathologic accumulation of copper in the liver. The only way to accurately diagnose CAH is by histologic analysis of a liver biopsy sample paired with quantitative assessment of hepatic copper concentrations.
Despite the ever-expanding assortment of diagnostic tests becoming available, do not overlook simple, practical, and affordable diagnostic tests. When performed correctly, these economical tests provide a wealth of information to facilitate diagnosis and treatment of patients.
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