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. 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.

journal_name

Indian Pediatr

journal_title

Indian pediatrics

authors

Bijarnia-Mahay S,Jain V,Bansal RK,Reddy GM,Haberle J

doi

10.1007/s13312-016-0920-2

subject

Has Abstract

pub_date

2016-08-08 00:00:00

pages

732-4

issue

8

eissn

0019-6061

issn

0974-7559

journal_volume

53

pub_type

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