tyrosinemia


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Related to tyrosinemia: tyrosinemia type 2

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]
References in periodicals archive ?
(6.) Baumann U, Preece MA, Green A, Kelly DA, McKiernan PJ.Hyperinsulinism in tyrosinemia type 1.
Newborn screening for hepatorenal tyrosinemia by tandem mass spectrometry: Analysis of succinylacetone extracted from dried blood spots.
Neurologic crises in hereditary tyrosinemia. N Engl J Med 1990; 322: 432-7.
Another symposium on tyrosinemia, under the title of "Conference on hereditary tyrosinemia", was held at the Hospital for Sick Children, Toronto, Canada, in March, 1966.
Newborn screening for hepatorenal tyrosinemia: Tandem mass spectrometric quantification of succinylacetone.
Deficiency of this enzyme causes heredity tyrosinemia type 1 (hepatorenal tyrosinemia), an autosomal recessive disease that has an estimated prevalence of 100,000 persons worldwide (Mitchell et al.
"Gene therapy for liver enzyme deficiencies: what have we learned from models for Crigler-Najjar and tyrosinemia?".
He had gotten to a point where he wouldn't eat meat, and one of the effects of tyrosinemia is it turns the proteins we get from meat toxic and makes him feel bad.
Swedish Orphan brings two proprietary orphan drugs to the new entity -- Orfadin for hereditary tyrosinemia type 1 and Multiferon for advanced malignant melanoma and second-line treatment of patients who are not responding to or intolerant to recombinant interferon alpha.
This article focuses on tyrosinemia type 1, a disorder that can cause early death if not treated.
An increase in ALA in the blood and brain areas could contribute to the triggering of behavior disorders in patients carrying genetic porphyrias, including acute intermittent porphyria (AIP) and hereditary tyrosinemia type 1, and also in lead poisoned individuals.

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