Literature DB >> 27567650

Lysinuric Protein Intolerance Presenting with Recurrent Hyperammonemic Encephalopathy.

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

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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Year:  2016        PMID： 27567650     DOI： 10.1007/s13312-016-0920-2

Source DB:  PubMed          Journal:  Indian Pediatr        ISSN： 0019-6061            Impact factor:   1.411


  6 in total

Review 1.  Overview of symptoms and treatment for lysinuric protein intolerance.

Authors:  Atsuko Noguchi; Tsutomu Takahashi
Journal:  J Hum Genet       Date:  2019-06-18       Impact factor: 3.172

Review 2.  Amino Acid Transport Defects in Human Inherited Metabolic Disorders.

Authors:  Raquel Yahyaoui; Javier Pérez-Frías
Journal:  Int J Mol Sci       Date:  2019-12-23       Impact factor: 5.923

3.  Children with lysinuric protein intolerance: Experience from a lower middle income country.

Authors:  Syed Bilal Hashmi; Sibtain Ahmed
Journal:  World J Clin Pediatr       Date:  2022-07-09

4.  Immune Dysregulation Mimicking Systemic Lupus Erythematosus in a Patient With Lysinuric Protein Intolerance: Case Report and Review of the Literature.

Authors:  Josefina Longeri Contreras; Mabel A Ladino; Katherine Aránguiz; Gonzalo P Mendez; Zeynep Coban-Akdemir; Bo Yuan; Richard A Gibbs; Lindsay C Burrage; James R Lupski; Ivan K Chinn; Tiphanie P Vogel; Jordan S Orange; M Cecilia Poli
Journal:  Front Pediatr       Date:  2021-05-20       Impact factor: 3.418

5.  Urea cycle disorders in India: clinical course, biochemical and genetic investigations, and prenatal testing.

Authors:  Sunita Bijarnia-Mahay; Johannes Häberle; Anil B Jalan; Ratna Dua Puri; Sudha Kohli; Ketki Kudalkar; Véronique Rüfenacht; Deepti Gupta; Deepshikha Maurya; Jyotsna Verma; Yosuke Shigematsu; Seiji Yamaguchi; Renu Saxena; Ishwar C Verma
Journal:  Orphanet J Rare Dis       Date:  2018-10-01       Impact factor: 4.123

6.  Inducible Slc7a7 Knockout Mouse Model Recapitulates Lysinuric Protein Intolerance Disease.

Authors:  Susanna Bodoy; Fernando Sotillo; Meritxell Espino-Guarch; Maria Pia Sperandeo; Aida Ormazabal; Antonio Zorzano; Gianfranco Sebastio; Rafael Artuch; Manuel Palacín
Journal:  Int J Mol Sci       Date:  2019-10-24       Impact factor: 5.923
  6 in total

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