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Background: Hereditary Tyrosinemia I (HT1) is an inborn error of tyrosine catabolism; an autosomal recessive disorder caused by defective activity of fumarylacetoacetate hydrolase (FAH) enzyme, is characterized by progressive liver disease, renal tubular dysfunction, and porphyria-like crises. Succinylacetone (SA); a compound derived from the tyrosine catabolic intermediate fumarylacetoacetate has been demonstrated to be a mitochondrial toxin. Symptoms may start during the first few months (acute type); in second half of the first year (subacute type) or in the following years up to adulthood (chronic type). All patients stand a high risk of developing hepatocellular carcinoma (HCC) secondary to cirrhosis. Diagnostic methods: Elevated levels of SA, α fetoprotein and plasma levels of tyrosine, phenylalanine and methionine, Newborn screening and prenatal diagnosis are available in many countries. Management and treatment: A dramatic improvement in prognosis following treatment with Nitisinone, along with protein-restricted diet and option of liver transplantation in acutely ill infants fails to respond to Nitisinone, or diagnosed HCC. Conclusion: HTI is a treatable disease, it has heterogeneous hepatorenal manifestations. Elevated levels of SA in plasma or urine are diagnostic. An early diagnosis and treatment with Nitisinone is critical to normal development and survival. Individuals should follow a life-long low-tyrosine and phenylalanine diet.

A Review of Metabolic Disorder of Amino Acid Tyrosinemia type I: When to Suspect and how to Diagnose