tyrosinemia type I

an autosomal recessive disorder due to mutation in the FAH gene (locus: 15q23-q25), which encodes fumarylacetoacetase, an enzyme important in tyrosine catabolism. It is characterized by accumulation of succinylacetoacetate and succinylacetone, leading to secondary deficiencies in porphobilinogen synthase and other enzymes and subsequent hepatorenal damage. The acute form shows onset soon after birth, with cabbagelike odor and death from liver failure in infancy; the chronic form is characterized by chronic liver disease, renal tubular dysfunction, hypophosphatemic rickets, and death in childhood.