title: Persistent tyrosinemia associated with low activity of tyrosine aminotransferase.
abstract: A 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 Km value 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.
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors / Q000201:enzymology* / Q000235:genetics; D001706:Biopsy; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D007525:Isoelectric Focusing; D007700:Kinetics; D008099:Liver / Q000201:enzymology; D008297:Male; D014443:Tyrosine / Q000097:blood*; D014444:Tyrosine Transaminase / Q000172:deficiency*
chemical_list: D014443:Tyrosine; D014444:Tyrosine Transaminase