tyrosinaemia


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Related to tyrosinaemia: tyrosinemia type 2

tyrosinaemia

A genetic AUTOSOMAL RECESSIVE metabolic disorder due to a deficiency of the enzyme tyrosine aminotransferase. This causes abnormally high blood levels of tyrosine and leads to disturbance of brain function with mental retardation.
References in periodicals archive ?
A tandem mass spectrometry was negative when he received nothing by mouth, but was positive for tyrosinaemia after full feeding.
Hepatocellular carcinoma despite long-term survival in chronic tyrosinaemia I.
Oliver was transferred to Birmingham, where medics diagnosed a rare hereditary disease, Tyrosinaemia Type 1.
Pregnancy during nitisinone treatment for tyrosinaemia type I: First human experience.
Hereditary tyrosinaemia type I is a devastating autosomal recessive metabolic disorder, which, if untreated, causes liver failure, rickets, painful neurological crisis and hepatocellular carcinoma.