| 释义 |
tyrosinemia
Thesaurus| Noun | 1. | tyrosinemia - autosomal recessive defect in tyrosine metabolism resulting in liver and kidney disturbances and mental retardationautosomal recessive defect, autosomal recessive disease - a disease caused by the presence of two recessive mutant genes on an autosome |
tyrosinemia
tyrosinemia[‚tir·ə′sē·mē·ə] (medicine) An inborn metabolic disorder in which there is a deficiency of the enzyme p-hydroxyphenylpyruvic acid oxidase with abnormally high blood levels of tyrosine and sometimes methionine. tyrosinemia
tyrosinemia [ti″ro-sĭ-ne´me-ah] an aminoacidopathy consisting of defective metabolism of tyrosine and its buildup in the body, as well as urinary excretion of related metabolites. Several forms exist: Type I is an autosomal recessive trait with an acute form that is usually fatal in infancy and a chronic form characterized by chronic liver and kidney disease, rickets, and death in childhood. Type II is an oculocutaneous syndrome with crystallization of accumulated tyrosine in the epidermis as palmoplantar hyperkeratoses and in the corneas as herpetiform ulcers, often accompanied by mental retardation.ty·ro·si·ne·mi·a (tī'rō-si-nē'mē-ă), [MIM*276600, *276700, and *276710] A group of autosomal recessively inherited disorders of tyrosine metabolism associated with elevated blood concentration of tyrosine, and enhanced urinary excretion of tyrosine and tyrosyl compounds. Type I tyrosinemia, due to deficiency of fumarylacetoacetase (FAH), is characterized by hepatosplenomegaly, nodular liver cirrhosis, multiple renal tubular reabsorptive defects, and vitamin D-resistant rickets; caused by mutation in the FAH gene on chromosome 15q. Type II tyrosinemia, due to deficiency of tyrosine aminotransferase (TAT), is characterized by corneal ulcers and keratosis of digits, palms, and soles; caused by mutation in the TAT gene on 16q. Type III tyrosinemia is associated with intermittent ataxia and drowsiness without liver dysfunction and is due to 4-hydroxy-phenylpyruvate dioxygenase (4HPPD) deficiency. Synonym(s): hypertyrosinemia [tyrosine + G. haima, blood] ty·ro·si·ne·mi·a (tī'rō-si-nē'mē-ă) [MIM*276600, *276700, and *276710] Inherited disorders of tyrosine metabolism associated with elevated blood concentration of tyrosine and enhanced urinary excretion of tyrosine and tyrosyl compounds. [tyrosine + G. haima, blood]AcronymsSeeTYRtyrosinemia
Related to tyrosinemia: tyrosinemia type 2Words related to tyrosinemianoun autosomal recessive defect in tyrosine metabolism resulting in liver and kidney disturbances and mental retardationRelated Words- autosomal recessive defect
- autosomal recessive disease
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