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Tyrosine catabolism pathway. Diagram of tyrosine catabolism pathway highlighting enzymes and the associated defect of FAH, the last enzyme in tyrosine catabolism. Fumarylacetoacetate (FAA), the substrate for FAH, accumulates in FAH-deficient hepatocytes and proximal renal tubular cells, resulting in liver and kidney damage. The principal metabolites of FAA, succinyl acetoacetate and succinylacetone, are released into the circulation and can be measured for diagnosis.
