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Definitions for "Tyrosinemia"
Keywords:  autosomal, liver, recessive, metabolism, tyrosinaemia
Related Terms: Phenylketonuria, Homocystinuria, Pku, Inborn error of metabolism, Hurler syndrome, Cystinuria, Metabolic disorder, Galactosaemia, App , Wilson's disease, Galactosemia, Porphyria, Tay-sachs disease, Genetic disease, Genetic disorder, Lesch-nyhan syndrome, Alagille syndrome, Mucopolysaccharidosis, Gilbert's syndrome, Phenylalanine, Angelman syndrome, Birth defect, Prader-willi syndrome, Marfan's syndrome, Down syndrome, Williams syndrome, Huntington disease, Kwashiorkor, Down's syndrome, Trisomy 13, Enzyme replacement therapy, Lactic acidosis, Transaminase, Dysmorphology, Amyloidosis, Uric acid, Trisomy 18, Ataxia telangiectasia, Congenital, Hemochromatosis, Fragile x syndrome, Tuberous sclerosis, Klinefelter's syndrome, Tryptophan, Missense mutation, Threonine, Biochemical, Lysine, Trisomy 21
autosomal recessive disease due to problems with catabolism of tyrosine to fumarate and acetoacetate. Death usually results by 10 years of age from liver failure, cirrhosis and hepatocellular carcinoma.
gailsbooks.com
Tyrosine is a type of amino acid (a building block of proteins). Tyrosinemia is a rare, inherited disorder of tyrosine metabolism where there are abnormally high levels of tyrosine in the blood and urine. This can affect the liver and kidneys.
cdhf.ca
autosomal recessive defect in tyrosine metabolism resulting in liver and kidney disturbances and mental retardation
wordnet.princeton.edu
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