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Indian Pediatrics

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

Lysinuric protein intolerance presenting with recurrent hyperammonemic encephalopathy

  • Sunita Bijarnia-Mahay
  • Vivek Jain
  • Rajiv Kumar Bansal
  • Gummadi Maheshwar Reddy
  • Johannes Häberle
Case Report
  • 24 Downloads

Abstract

Background

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.

Outcome

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.

Message

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

Keywords

Behavioral problems Neurometabolic disorder Urea cycle disorder 

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References

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    Sebastio G, Nunes V. Lysinuric protein intolerance. 2006 Dec 21 [Updated 2011 Oct 13]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1361/. Accessed on 20 Febuary, 2016.Google Scholar
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    Ogier de Baulny H, Schiff M, Dionisi-Vici C. Lysinuric protein intolerance (LPI): A multi organ disease by far more complex than a classic urea cycle disorder. Mol Genet Metab. 2012;106: 12–7.CrossRefPubMedGoogle Scholar
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    Maines E, Comberiati P, Piacntini GL, Boner AL, Peroni DG. Lysinuric protein intolerance can be misdiagnosed as food protein-induced enterocolitis syndrome. Pediatr Allergy Immunol. 2013;24: 509–10.CrossRefPubMedGoogle Scholar
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    Moosa NV, Minal D, Rao AN, Kumar A. Recurrent stupor due to lysinuric protein intolerance. Neurol India. 2005;53: 333–4.CrossRefPubMedGoogle Scholar

Copyright information

© Indian Academy of Pediatrics 2016

Authors and Affiliations

  • Sunita Bijarnia-Mahay
    • 1
    • 5
  • 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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