Persistent Tyrosinemia Associated with Low Activity of Tyrosine Aminotransferase
作者:
STURE ANDERSSON,
ANTAL NEMETH,
JORMA OHISALO,
BIRGITTA STRANDVIK,
期刊:
Pediatric Research
(OVID Available online 1984)
卷期:
Volume 18,
issue 7
页码: 675-678
ISSN:0031-3998
年代: 1984
出版商: OVID
数据来源: OVID
摘要:
SummaryA son of related Turkish parents had grossly elevated serum tyrosine concentration and excreted tyrosine and p-hydroxyphenolic acids into the urine, whereas neither succinylacetone nor succinylacetoacetate could be demonstrated. The tyrosine concentration was normalized by a proper diet. This was not followed strictly at home. During the first 2 years of life, the patient had severe undulating nystagmus that disappeared later. No skin lesions were present and there was only slight corneal clouding of the eyes. At the age of 5, the patient had attained the maturity of a 4-year-old, showing a balanced profile.Specific tyrosine aminotransferase (EC 2.6.1.5) was present in the liver; the Kmvalue for tyrosine was normal. However, the total activity was less than 10% of normal, a situation similar to that observed in fetal human liver. A younger sister of the patient also has tyrosinemia and low hepatic tyrosine aminotransferase activity.
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