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Liver Disorders

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Tyrosinemia (Neonatal tyrosinemia)

Tyrosinemia is an inborn metabolic disorder of the amino acid, tyrosine. There are several types of tyrosinemia, the most common of which is type 1, also recognized as hereditary tyrosinemia or hepatorenal tyrosinemia.

Type 1 is caused by a deficiency of fumarylacetoacetate hydrolase (FAH), a liver enzyme which breaks down tyrosine, resulting in increased levels of tyrosine in the blood and urine. Affecting major organs such as the kidney, liver and peripheral nerves, this condition is characterized by progressive liver failure and cirrhosis.

Infants with type 1 may develop symptoms as early as two weeks of age or into the first year of life; symptoms include hypoglycemia, fever, hemorrhage, an enlarged liver, vomiting and a cabbage-like smell, signaling an acute hepatic crisis.

Treatment includes a diet high in vitamin C and low in tyrosine and phenylalanine. In severe cases, a liver or kidney transplant is warranted.