Outcome of children with hereditary tyrosinaemia following newborn screening.
(14.) Lindstedt S, Holme E, Lock EA, Hjalmarson O, Strandvik B.Treatment of hereditary tyrosinaemia type I by inhibition of 4-hydroxyphenylpyruvate dioxygenase.
(1) reported a rare co-occurrence of acute pancreatitis with type 1 hereditary tyrosinaemia (HT1).
Type 1 hereditary tyrosinaemia is caused by a deficiency of fumarylacetoacetate hydrolase, the enzyme responsible for the hydrolysis of fumarylacetoacetase.
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).
Currently, Orfadin is approved in the US and several other countries for the treatment of patients with confirmed diagnosis of hereditary tyrosinaemia type 1 (HT-1) in combination with dietary restriction of tyrosine and phenylalanine.
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.
People with Hereditary Tyrosinaemia type-1 (HT-1) have problems breaking down an amino acid called tyrosine.
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 (HT-I) (OMIM 276700) is a rare autosomal recessive disease caused by deficiency of fumarylacetoacetate hydrolase (FAH), which is the last enzyme in tyrosine catabolic pathway.