Dietary Treatment in Tyrosinemia (Tyrosinosis)

Abstract

IN TYROSINEMIA or tyrosinosis¹the main clinical features are multiple renal tubular defects as in the typical de ToniDebré Fanconi syndrome and nodular cirrhosis of the liver.^1,2,3Thrombocytopenia and increased pigmentation of the skin may be other characteristics. Slight mental retardation has been found in some of the patients.¹There are no particular neurologic abnormalities. Abdominal distension, rickets resistant to ordinary doses of vitamin D, or both have been the presenting symptoms at ages ranging between a few months and 4 years. The prognosis is variable. The disorder may cause death in early infancy, but some patients have also reached adult age. The causes of death have been liver failure or an acute water and electrolyte crisis due to the renal tubular defects. Biochemically, the condition which probably is inherited as an autosomal recessive gene is characterized by hypertyrosinemia and the urinary excretion of large amounts of