Hereditary tyrosinaemia is a genetic metabolic defect associated with severe liver disease in childhood. For the disease to develop, both parents must be carriers of the gene that causes it

In these families, there is a one in four chance that pregnant women will give birth to a sick child.

In the so-called acute form, changes occur during the first month of life: children show reduced growth, splenomegaly, hepatomegaly, a tense abdomen, swollen legs and a tendency to bleed, particularly from the nose.

Jaundice may be accentuated.

Despite powerful therapy, death often occurs between 3 and 9 months of age due to liver failure.

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Children suffering from this disease are candidates for liver transplantation.

Diagnosis of tyrosinaemia

A prenatal diagnosis is possible by measuring the fumarilacetoacetate hydrolase found in the cells of the amniotic fluid.

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This method makes it possible to consider termination of pregnancy for the affected foetus.

Although the treatment has not proved effective, children with tyrosinaemia are usually prescribed a diet with low doses of phenylalanine and tyrosine

This lowers amino acid levels in the blood.

Great attention is paid to good nutrition and the intake of adequate vitamins and minerals, which help keep the patient in good condition for transplantation, still the best form of therapy.

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Source:

Pagine Mediche