Tyrosinemia I Hidden Danger

Описание: An elevated succinylacetone level on newborn screening is highly specific and sensitive for hereditary tyrosinemia type I (HT1), a rare autosomal recessive metabolic disorder. HT1 is caused by a deficiency of fumarylacetoacetate hydrolase, which disrupts the tyrosine degradation pathway and leads to toxic metabolite accumulation. Succinylacetone is a diagnostic marker that signals the presence of these harmful intermediates, which can severely damage liver and kidney tissues if left untreated.

The early detection of HT1 through newborn screening allows for prompt initiation of nitisinone therapy and dietary restriction of tyrosine and phenylalanine. Nitisinone inhibits the enzyme 4-hydroxyphenylpyruvate dioxygenase, which prevents the formation of toxic metabolites that contribute to disease progression. This combined treatment approach effectively reduces hepatic injury and prevents the metabolic crises associated with untreated HT1.

One of the most serious long-term risks of untreated HT1 is the development of hepatocellular carcinoma, which can occur as early as infancy but most commonly arises during early childhood. Regular surveillance with liver imaging and biochemical markers is essential to monitor for tumor development in affected patients. Early diagnosis and effective therapy significantly reduce the risk of hepatocellular carcinoma and improve survival outcomes in neonates diagnosed with HT1.

Cardiac arrhythmia is usually linked to cardiac structural abnormalities or electrolyte imbalances. Bladder cancer typically arises from chronic carcinogen exposure and has no relation to HT1. Pancreatic cancer is unrelated to tyrosine metabolism. The life-threatening complications of untreated HT1 include hepatocellular carcinoma, kidney disease, intellectual disability, and multiorgan failure.