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Lysinuric protein intolerance presenting with recurrent hyperammonemic encephalopathy


Bijarnia-Mahay, Sunita; Jain, Vivek; Bansal, Rajiv Kumar; Reddy, Gummadi Maheshwar; Haberle, Johannes (2016). Lysinuric protein intolerance presenting with recurrent hyperammonemic encephalopathy. Indian Pediatrics, 53(8):732-734.

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.

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.

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Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > University Children's Hospital Zurich > Medical Clinic
Dewey Decimal Classification:610 Medicine & health
Language:English
Date:8 August 2016
Deposited On:27 Jan 2017 13:31
Last Modified:27 Jan 2017 13:32
Publisher:Indian Academy of Pediatrics
ISSN:0019-6061
Free access at:Publisher DOI. An embargo period may apply.
Publisher DOI:https://doi.org/10.1007/s13312-016-0920-2
PubMed ID:27567650

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