Arch Dis Child 1976 Feb;51(2):106-13

Hereditary tyrosinaemia. Clinical, enzymatic, and pathological study of a
infant with the acute form of the disease

Carson NA, Biggart JD, Bittles AH, Donovan D

Abstract
A clinical, enzymatic, and pathological study of an infant with the acute form
of hereditary tyrosinaemia is presented. Treatment with a diet low in
methionine, tyrosine, and phenylalanine was unsuccessful. A selection of
specific and nonspecific hepatic enzymes, obtained at necropsy within one hour
of the infant's death at 9 1/2 weeks, were studied to try to throw light on the
basic defect. The major pathological findings were those of a peculiar hepatic
fibrosis associated with bile retention and an abnormal grouping of hepatocytes,
islet-cell hyperplasia of the pancreas, and dilatation of the proximal renal
tubules. Death was precipitated by bronchopneumonia and liver failure. The
difficulty in diagnosing the acute form of tyrosinaemia is pointed out,
especially in differentiating it from hereditary galactosaemia (transferase
deficiency) and hereditary fructosaemia. All three may present with the same
clinical symptoms and liver lesions, and the distinction must be made by enzyme
studies and by therapeutic trial