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What does FAH stand for?

FAH stands for caused by a deficiency of fumarylacetoacetate hydrolase


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Samples in periodicals archive:

Autosomal recessive amino acid disorder caused by a deficiency in fumarylacetoacetate hydrolase enzyme activity causing the build-up of the amino acid tyrosine in the blood. Early detection and treatment is successful in preventing poor growth, liver damage, swelling of the legs, and inappropriate bleeding.