Medical term:
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.
Miller-Keane Encyclopedia and Dictionary of Medicine, Nursing, and Allied Health, Seventh Edition. © 2003 by Saunders, an imprint of Elsevier, Inc. All rights reserved.
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]
Farlex Partner Medical Dictionary © Farlex 2012
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]
Medical Dictionary for the Dental Professions © Farlex 2012
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