Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0028738 (nystagmus)
 7,431 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

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.
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PMID:Persistent tyrosinemia associated with low activity of tyrosine aminotransferase. 614 10

A 10-year-old boy with palmoplantar hyperkeratosis and keratitis was reported. His physical development was normal and mental development was lower limit. He had also convulsions with low grade fever several times, and his EEG showed paroxysmal discharges. The plasma levels of phenylalanine and tyrosine were 5 to 10 times higher than those of controls. Tyrosinemia II was diagnosed on the low level of cytosol tyrosine aminotransferase in biopsied liver. The cases of tyrosinemia II were reviewed on the symptoms of the central nervous system. Two of twelve cases had convulsions. Adult cases demonstrated nystagmus, tremor, ataxia, and convulsion. Hyperkeratosis and corneal lesions were characteristic in symptoms of tyrosinemia II, but attention should be paid to the symptoms of the central nervous system.
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PMID:[A case of tyrosinemia type II with convulsion and EEG abnormality]. 826 Feb 11