tyrosinosis


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tyrosinosis

[‚tir·ə·sə′nō·səs]
(medicine)
Excretion of excessive amounts of tyrosine and its first oxidation products in the urine.
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References in periodicals archive ?
It is also known as tyrosinemia type 1, hereditary tyrosinemia, congenital tyrosinosis, and fumarylacetoacetate hydrolase (FAH) deficiency (FAHD), and is assigned OMIM 276700.
She proposed that the defect in tyrosinosis was a deficiency of 4-hydroxyphenylpyruvate dioxygenase (4-HPPD).
According to the description of Tyrosinosis (Medes) and Tyrosinosis (Sakai) by Auerbach VII and DiGeorge AM in Nelson Textbook of Pediatrics 1975, (14) although 4-HPPD deficiency was proposed in both cases, the clinical differences between the two cases were as follows.
Tyrosinosis (Medes): In 1932, Medes reported a study of an adult male with a defect of tyrosine metabolism.
The investigation of aromatic acids in phenylketonuria, alkaptonuria and tyrosinosis using gas-liquid chromatography.