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 ?
(14.) Lindstedt S, Holme E, Lock EA, Hjalmarson O, Strandvik B.Treatment of hereditary tyrosinaemia type I by inhibition of 4-hydroxyphenylpyruvate dioxygenase.
A tandem mass spectrometry was negative when he received nothing by mouth, but was positive for tyrosinaemia after full feeding.
Recommendations for the management of tyrosinaemia type 1.
Other applications that have also succeeded - and will therefore qualify for additional EU aid in their development under the Orphan Medicinal Products Regulation adopted in 2000 - include iloprost from Schering AG, for primary and certain secondary forms of pulmonary hypertension; anagrelide hydrochloride from Shire Pharmaceuticals of the UK, for essential thrombocytopenia; busulfan for Pierre Fabre of France, in hematopoeietic progenitor cell transplantation; nitisone from Swedish Orphan AB for tyrosinaemia; and ethyl eicosopentaenoate from Laxdale of the UK, for Huntingdon's Disease.
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.
At its most recent meeting, on 26-27 October, the Committee for Orphan Medicinal Products issued six positive opinions on the designation of orphan medicinal products, for conditioning treatment prior to hematopoietic progenitor cell transplantation; erythema nodosum leprosum or type II lepra reactions; essential thrombocythaemia; Huntington's Disease; primary and certain forms of secondary pulmonary hypertension; and tyrosinaemia type 1.These will now be forwarded to the European Commission for the formal decision-making process.
* metabolic diseases such as Wilson's disease, alpha 1 antitrypsin deficiency, Crigler-Najjar syndrome, and other inborn errors of metabolism (tyrosinaemia, hyperoxaluria, organic acidaemias)