tyrosinemia

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Related to Tyrosinaemia: tyrosinemia type 2
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Noun1.tyrosinemia - autosomal recessive defect in tyrosine metabolism resulting in liver and kidney disturbances and mental retardation
autosomal recessive defect, autosomal recessive disease - a disease caused by the presence of two recessive mutant genes on an autosome
References in periodicals archive ?
A male infant, with weight 810g and delivered at the gestational age of 25 weeks and 2 days, was misdiagnosed with tyrosinaemia for several weeks.
Swedish Orphan Biovitrum AB (Sobi) (STO:SOBI), an international specialty healthcare company dedicated to rare diseases, announced on Wednesday the approval by the Food and Drug Administration (FDA) of a higher strength 20 mg capsule of Orfadin (nitisinone) for the treatment of Hereditary Tyrosinaemia type-1 (HT-1).
The US Food and Drug Administration (FDA) has as of 22 April 2016, approved Orfadin (nitisinone) Oral Suspension for the treatment of hereditary tyrosinaemia type-1 (HT-1) in combination with dietary restriction of tyrosine and phenylanine.
Children with metabolic liver disease (such as [alpha]1-antitrypsin deficiency, tyrosinaemia and Wilson disease) and other cholestatic disorders (such as Alagille syndrome and progressive intrahepatic cholestatic syndrome) are likely to account for the remainder of the referrals for liver transplantation.
Cardiomyopathy in tyrosinaemia type I is common but usually benign.
Not included in this series are those cases where encephalopathy may be secondary to failure of other organs such as hepatorenal failure in tyrosinaemia type 1 and galactosaemia, adrenal failure in adrenoleukodystrophy (X-ALD) or hypoglycaemia in glycogen storage disease type 1.