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Aim  The aim of the study is to investigate a variation in the gene  SLC6A19  in a female patient with Hartnup disorder manifested only by seizure.    Methods  DNA samples collected from the patient and her parents were analyzed and twelve exons of the  SLC6A19  gene were amplified and sequenced.    Results  We found c.47C&gt;T and c.1522G&gt;A mutations in the gene  SLC6A19  belonging to the patient, which are missense mutations inherited from her parents. The c.47C&gt;T mutation is from her father and c.1522G&gt;A is inherited from her mother. The parents are both heterozygous healthy carriers.    Conclusion  Two novel mutations of the  SLC6A19  gene are revealed in the female patient with Hartnup disorder, exhibiting no typical dermatologic problems, but having dramatic neurological symptoms.

Study of Seizure-Manifested Hartnup Disorder Case Induced by Novel Mutations in SLC6A19