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Liver disease
Tyrosinaemia type i
Tyrosinaemia is a relatively rare genetic liver disease in which a defect in a particular enzyme in a metabolic pathway leads to liver failure. A new drug (NTBC) plus dietary restriction, gives a good outlook for children with this disorder but some patients do require liver transplantation.
Inheritance patterns
Autosomal recessive.
Prenatal diagnosis
Prenatal diagnosis is possible by the measurement of succinylacetone in the amniotic fluid or by measuring fuamryl acetoacetate hydrolase levels (the missing enzyme responsible for this condition) in the cultured amniocytes or chorionic villus cells.
Crigler-najjar syndrome type 1
| Viral infections 
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