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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(14.) Lindstedt S, Holme E, Lock EA, Hjalmarson O, Strandvik B.Treatment of hereditary tyrosinaemia type I by inhibition of 4-hydroxyphenylpyruvate dioxygenase.

Clinical Features of 29 Patients with Hereditary Tyrosinemia I in Western Turkey

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

Recommendations for the management of tyrosinaemia type 1.

Comment on Pancreatitis in Type 1 Tyrosinemia

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.

MORE ORPHAN DRUGS WIN EU DESIGNATION

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

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.

MEDICINES: NEW ORPHAN DRUGS SYSTEM BRINGS RESULTS

* metabolic diseases such as Wilson's disease, alpha 1 antitrypsin deficiency, Crigler-Najjar syndrome, and other inborn errors of metabolism (tyrosinaemia, hyperoxaluria, organic acidaemias)