hereditary tyrosinaemia

hereditary tyrosinaemia

(1) Tyrosinaemia type I; hepatorenal tyrosinaemia, OMIM:276700. 
(2) Tyrosinaemia type II; oculocutaneous tyrosinaemia, OMIM:276600.
(3) Tyrosinaemia type III, OMIM:276710.

hereditary tyrosinaemia

A metabolic disorder due to an inherited deficiency of the enzyme fumarylacetoacetate hydrolase. There is progressive liver and kidney damage, low blood phosphate, RICKETS and sometimes severe neurological complications and muscle weakness. Tyrosine is excreted in the urine. In acute cases death occurs in the first year of life. Most cases are fatal unless treated. A diet low in tyrosine and phenylalanine is given.
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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.
Treatment of hereditary tyrosinaemia type I by inhibition of 4- hydroxyphenylpyruvate dioxygenase.
Treatment of hereditary tyrosinaemia type 1 by inhibition of 4-hydroxyphenylpyruvate dioxygenase.

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