Lysinuric protein intolerance presenting with recurrent hyperammonemic encephalopathy
- 24 Downloads
Lysinuric protein intolerance is an inherited disorder of transport of cationic amino acids, causing amino aciduria.
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.
KeywordsBehavioral problems Neurometabolic disorder Urea cycle disorder
Unable to display preview. Download preview PDF.
- 1.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