Lysinuric Protein Intolerance Presenting with Recurrent Hyperammonemic Encephalopathy

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

doi:10.1007/s13312-016-0920-2

Lysinuric Protein Intolerance Presenting with Recurrent Hyperammonemic Encephalopathy

Indian Pediatr. 2016 Aug 8;53(8):732-4. doi: 10.1007/s13312-016-0920-2.

Authors

Sunita Bijarnia-Mahay¹, Vivek Jain, Rajiv Kumar Bansal, Gummadi Maheshwar Reddy, Johannes Haberle

Affiliation

¹ Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, *Department of Pediatrics, Santokba Durlabhji Memorial Hospital, Jaipur; and Department of Biochemical Genetics, Sandor Lifesciences Pvt. Ltd., Hyderabad; India; and Division of Metabolism, University Childrens Hospital Zurich, Switzerland Correspondence to: Dr Sunita Bijarnia Mahay, Senior Consultant, Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, Rajinder Nagar, New Delhi 110 060. bijarnia@gmail.com.

PMID: 27567650
DOI: 10.1007/s13312-016-0920-2

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.

Publication types

Case Reports

MeSH terms

Amino Acid Metabolism, Inborn Errors*
Brain Diseases*
Child, Preschool
Consanguinity
Humans
Hyperammonemia*
Male

Supplementary concepts

Lysinuric Protein Intolerance