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Related to tyrosinemia: 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
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References in periodicals archive ?
Nitisinone capsules are indicated for the treatment of adult and paediatric patients with hereditary tyrosinemia type 1 (HT-1) in combination with dietary restriction of tyrosine and phenylalanine.
Moreover, low levels of aromatic amino acids in casein glycomacropeptide also makes it a suitable for dietary intake for patients suffering from hepatic and tyrosinemia disorders.
Cambrooke announced the launch of Tylacti COMPLETE Bars, a nutritionally complete medical food available in a convenient format, for the dietary management of Tyrosinemia (TYR) in 2017.
Other diseases (n=10) were also detected on the basis of their pathognomics metabolites and included tyrosinemia type 1 (n=4), alkaptonuria (n=5) and ornithine transcarbamoylase deficiency (n=1).
It is reported that galactosemia, tyrosinemia, bile acid metabolism disorders, and alpha-1 antitrypsin deficiency may cause cholestasis, and there is no report of cholestasis associated with vitamin B12 deficiency.6 In our study, we found only two cases (0.9 percent) with cholestasis: one case with and the other without vitamin B12 deficiency.
Orfadin is approved in combination with dietary restriction of tyrosine and phenylalanine in the treatment of hereditary tyrosinemia type 1 (HT-1), a rare genetic disorder that may result in liver, renal and neurological complications and in most cases is fatal if untreated.
Hereditary tyrosinemia Type I (HTI, OMIM 276700) is a rare inborn error of tyrosine metabolism due to deficiency of the enzyme fumarylacetoacetate hydrolase (FAH), the last enzyme in the tyrosine catabolic pathway (1) (Figure 1).
The primary diagnoses were biliary atresia, progressive familial intrahepatic cholestasis (PFIC), tyrosinemia, autoimmune hepatitis, fulminant hepatic failure, and congenital hepatic fibrosis (Table 1,2).
Delivery of CRISPR/Cas9 components through the hydrodynamic injection or adeno-associated virus-9 have been applied to correct mutation of fumarylacetoacetate hydrolase (FAH) or dystrophin gene (dmd) in mouse models of hereditary tyrosinemia type I (HTI) or Duchenne muscular dystrophy through homologous recombination or exon skipping therapy [126-128].
Hence, the benefit was obtained for diseases, such as phenylketonuria and tyrosinemia, on the diagnosis and monitoring.
CRISPR/Cas9 editing has also been successfully used to treat tyrosinemia and prevent cardiovascular diseases in in vivo adult mice [149].
Liver disease can be classified into more than hundred types out of which viral hepatitis, liver cancer, primary biliary cirrhosis, liver fibrosis, neonatal hepatitis, primary hepatoma, alcoholic liver damage, nonalcoholic liver disease, cholelithiasis, liver cirrhosis, hemochromatosis, primary sclerosing cholangitis, tyrosinemia, and Wilson disease are usually prevalent [28].

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