title: Lysinuric Protein Intolerance Presenting with Recurrent Hyperammonemic Encephalopathy.
abstract: BACKGROUND
  Lysinuric protein intolerance is an inherited disorder of transport of cationic amino acids, causing amino aciduria.
  
  
  METHODS
  A 3-year-old boy with 12 month history of episodic change in behavior (decreased sleep, poor interaction), stunted growth and hyperammonemia.
  
  
  RESULTS
  Genetic analysis revealed a homozygous mutation, c.158C>T (p.Ser53Leu) in exon 1 of SLC7A7 gene. With appropriate management of hyperammonemia episodes, his neurodevelopmental outcome is normal.
  
  
  CONCLUSIONS
  Lysinusic protein intolerance is a potentially treatable disorder and should not to be missed.
authors: Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, *Department of Pediatrics, Santokba Durlabhji Memorial Hospital, Jaipur; and Department of Biochemical Genetics, Sandor Lifesciences Pvt. Ltd., Hyderabad; India; and Division of Metabolism, University Childrens Hospital Zurich, Switzerland Correspondence to: Dr Sunita Bijarnia Mahay, Senior Consultant, Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, Rajinder Nagar, New Delhi 110 060. bijarnia@gmail.com.
authors: Sunita
authors: S
authors: Bijarnia-Mahay
authors: Vivek
authors: V
authors: Jain
authors: Rajiv Kumar
authors: RK
authors: Bansal
authors: Gummadi Maheshwar
authors: GM
authors: Reddy
authors: Johannes
authors: J
authors: Haberle
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors; D001927:Brain Diseases; D002675:Child, Preschool; D003241:Consanguinity; D006801:Humans; D022124:Hyperammonemia; D008297:Male