Tyrosinemia II: Lessons in Molecular Pathophysiology
作者:
Lowell A. Goldsmith,
期刊:
Pediatric Dermatology
(WILEY Available online 1983)
卷期:
Volume 1,
issue 1
页码: 25-34
ISSN:0736-8046
年代: 1983
DOI:10.1111/j.1525-1470.1983.tb01088.x
出版商: Blackwell Publishing Ltd
关键词: Tyrosinemia;keratosis palmaris/plantaris;tyrosinc;cornea
数据来源: WILEY
摘要:
Abstract:Tyrosinemia II is caused by a deficiency of hepatic tyrosine amino‐transferase. With the deficiency of this key enzyme of tyrosinc catabolism there is an increase in plasma tyrosine and then an increase in tyrosinc metabolites in the urine. The increased plasma tyrosinc causes tyrosine to crystallize in the cornea, producing corneal ulcerations and sometimes proliferation of corneal epithelium. In the epiderm is of the palms and soles, tyrosine leads to erosions, crusting, and then hyperkeratosis. The human disease is due to an autosomal recessive gene, and similar genetic diseases have been found in mink and in dogs. A nutritional model for the disease, in which a high‐tyrosine low‐protein diet is ted to rats, produces almost identical features. The features of this disorder and some of the implications of this disease for the study of other genetic diseases is discussed in this r
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