Type II tyrosinemia, also known as tyrosinemia type 2 or tyrosinemia catrometabolism, is a rare genetic disorder characterized by the deficiency of an enzyme called tyrosine aminotransferase (TAT). This enzymatic deficiency results in the accumulation of tyrosine and its byproducts, such as tyrosine transaminase and p-hydroxyphenylpyruvate, in various body tissues and fluids.
Individuals with type II tyrosinemia may experience a variety of symptoms, including liver dysfunction, which can lead to progressive liver cirrhosis, and renal tubular dysfunction, which can cause kidney problems. Additional manifestations of this disorder may include failure to thrive, rickets, intellectual disability, and an unusual cabbage-like odor associated with the accumulation of tyrosine byproducts.
The mode of inheritance for type II tyrosinemia is autosomal recessive, meaning that an individual must inherit two copies of the mutated TAT gene, one from each parent, to develop the condition. Genetic testing can confirm the diagnosis of type II tyrosinemia.
Treatment for type II tyrosinemia typically involves a restricted diet low in tyrosine and phenylalanine, as well as the supplementation of nutrients and medications that aid in the metabolism of tyrosine. Liver transplantation may be necessary in severe cases to prevent further liver damage.
Early detection and management of type II tyrosinemia are crucial to prevent long-term complications and improve the quality of life for affected individuals. Regular monitoring by a team of healthcare professionals, including metabolic specialists and dietitians, is essential for the ongoing management of this condition.
