Lysinuric Protein Intolerance Presenting with Recurrent Hyperammonemic Encephalopathy.

Bijarnia-Mahay, Sunita; Jain, Vivek; Bansal, Rajiv Kumar; Reddy, Gummadi Maheshwar; Häberle, Johannes

Lysinuric Protein Intolerance Presenting with Recurrent Hyperammonemic Encephalopathy.

Files

ip2016v53n8p732.pdf (22.66 KB)

Date

2016-08

Authors

Bijarnia-Mahay, Sunita

Jain, Vivek

Bansal, Rajiv Kumar

Reddy, Gummadi Maheshwar

Häberle, Johannes

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

Citation

Sunita Bijarnia-Mahay, Vivek Jain, Rajiv Kumar Bansal, Gummadi Maheshwar Reddy and Johannes Häberle. Lysinuric Protein Intolerance Presenting with Recurrent Hyperammonemic Encephalopathy. Indian Pediatrics. 2016 Aug; 53(8): 732-734.

URI

https://imsear.searo.who.int/handle/123456789/179182

Collections

Indian Pediatrics

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