Article
Tyrosinemia type II: Novel mutations in TAT in a boy with unusual presentation.
Pediatrics international : official journal of the Japan Pediatric Society - 1 Oct 2016
Gokay Songul, Kendirci Mustafa, Ustkoyuncu Pembe Soylu, Kardas Fatih, Bayram Ayse Kacar, Per Hüseyin, Poyrazoğlu Hatice Gamze
Abstract excerpt
Tyrosinemia type II is a rare autosomal recessive disorder caused by deficiency of tyrosine aminotransferase (TAT). It may occur with ocular and cutaneous symptoms with or without mental retardation, but epileptic seizure is a rare presentation of this disease. Herein we report the clinical, biochemical and genetic features of a 4-year-old boy who presented with afebrile seizure and photophobia. Genomic DNA was...
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