Hereditary tyrosinemia type I

Hereditary tyrosinemia type I is a rare autosomal recessive inborn error of metabolism caused by a deficiency of the enzyme fumarylacetoacetate hydrolase (FAH), the terminal enzyme in the tyrosine catabolic pathway This enzymatic block leads to the pathologic accumulation of toxic upstream metabolites, notably maleylacetoacetate, fumarylacetoacetate, and pathognomonic succinylacetone, primarily affecting the hepatic, renal, and peripheral nervous systems

This enzymatic block leads to the pathologic accumulation of toxic upstream metabolites, notably maleylacetoacetate, fumarylacetoacetate, and pathognomonic succinylacetone, primarily affecting the hepatic, renal, and peripheral nervous systems The disease typically manifests in infancy or early childhood with severe progressive liver dysfunction, cirrhosis, coagulopathy, and an elevated risk of hepatocellular carcinoma, alongside renal tubular Fanconi syndrome, hypophosphatemic rickets, and acut...

The disease typically manifests in infancy or early childhood with severe progressive liver dysfunction, cirrhosis, coagulopathy, and an elevated risk of hepatocellular carcinoma, alongside renal tubular Fanconi syndrome, hypophosphatemic rickets, and acute porphyria-like neurologic crises

The disease typically manifests in infancy or early childhood with severe progressive liver dysfunction, cirrhosis, coagulopathy, and an elevated risk of hepatocellular carcinoma, alongside renal tubular Fanconi syndrome, hypophosphatemic rickets, and acute porphyria-like neurologic crises