Indian Pediatrics

, Volume 53, Issue 8, pp 732–734 | Cite as

Lysinuric protein intolerance presenting with recurrent hyperammonemic encephalopathy

  • Sunita Bijarnia-MahayEmail author
  • Vivek Jain
  • Rajiv Kumar Bansal
  • Gummadi Maheshwar Reddy
  • Johannes Häberle
Case Report



Lysinuric protein intolerance is an inherited disorder of transport of cationic amino acids, causing amino aciduria.

Case characteristics

A 3-year-old boy with 12 month history of episodic change in behavior (decreased sleep, poor interaction), stunted growth and hyperammonemia.


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.


Lysinusic protein intolerance is a potentially treatable disorder and should not to be missed.


Behavioral problems Neurometabolic disorder Urea cycle disorder 


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Copyright information

© Indian Academy of Pediatrics 2016

Authors and Affiliations

  • Sunita Bijarnia-Mahay
    • 1
    • 5
    Email author
  • Vivek Jain
    • 2
  • Rajiv Kumar Bansal
    • 2
  • Gummadi Maheshwar Reddy
    • 3
  • Johannes Häberle
    • 4
  1. 1.Institute of Medical Genetics and GenomicsSir Ganga Ram HospitalNew DelhiIndia
  2. 2.Department of PediatricsSantokba Durlabhji Memorial HospitalJaipurIndia
  3. 3.Department of Biochemical GeneticsSandor Lifesciences Pvt. Ltd.HyderabadIndia
  4. 4.Division of MetabolismUniversity Children’s Hospital ZurichZurichSwitzerland
  5. 5.Institute of Medical Genetics and GenomicsUSir Ganga Ram Hospital, Rajinder NagarNew DelhiIndia

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