Lysinuric Protein Intolerance Presenting with Recurrent Hyperammonemic Encephalopathy.
Indian Pediatr
;
2016 Aug; 53(8): 732-734
Artigo
em Inglês
| IMSEAR
| ID: sea-179182
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.
Texto completo:
DisponíveL
Índice:
IMSEAR (Sudeste Asiático)
Idioma:
Inglês
Revista:
Indian Pediatr
Ano de publicação:
2016
Tipo de documento:
Artigo
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