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.
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A tandem mass spectrometry was negative when he received nothing by mouth, but was positive for tyrosinaemia after full feeding.
Haemophagocytic lymphohistiocytosis in a preterm infant: A case report
Hepatocellular carcinoma despite long-term survival in chronic tyrosinaemia I.
Key issues in the modes of action and effects of trichloroethylene metabolites for liver and kidney tumorigenesis
Oliver was transferred to Birmingham, where medics diagnosed a rare hereditary disease, Tyrosinaemia Type 1.
We were killing Olly with every spoonful of BABY FOOD and never knew it; EXCLUSIVE PARENTS' 'POISON' AGONY
Pregnancy during nitisinone treatment for tyrosinaemia type I: First human experience.
Biology and genetics of oculocutaneous albinism and vitiligo--common pigmentation disorders in southern Africa
Hereditary tyrosinaemia type I is a devastating autosomal recessive metabolic disorder, which, if untreated, causes liver failure, rickets, painful neurological crisis and hepatocellular carcinoma.
Hereditary tyrosinaemia type I presenting as multiple focal hepatic lesions
Tyrosinaemia type I and NTBC [2-(2-nitro-4trifluoromethylbenzoyl)-1,3-cyclohexanedione].
Spectrophotometric microassay for [delta]-aminolevulinate dehydratase in dried-blood spots as confirmation for hereditary tyrosinemia type I

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