Acute hereditary tyrosinaemia type I: Clinical, biochemical and haematological studies in twins

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Abstract
Affected twins with acute hereditary tyrosinaemia type I are described. Attempts at therapy with a phenylalanine‐tyrosine‐methionine restricted diet supplemented with cysteine, vitamin E and ascorbic acid failed to influence the course of the disorder. The bleeding diathesis was due to a morbid reduction of a number of clotting factors, particularly factor VII, and this was associated with impaired platelet aggregation and release. The liver of one showed a marked reduction in fumarylacetoacetate lyase activity and her urine contained a potent inhibitor of red cell δ‐aminolaevulinic acid dehydratase. Biochemical investigations of cultured fibroblasts suggest that these do not express the disorder and are unlikely to prove useful diagnostically.