Pondicherry Journal of Nursing

Register      Login

VOLUME 11 , ISSUE 3 ( Sep-Dec, 2018 ) > List of Articles

REVIEW ARTICLE

Case Report On L2 Hydroxy Glutaric Aciduria: A Disorder of Protein and Amino Acid Metabolism

Ms. Priyalatha G, Prof. Rajeswari S, Ms. Saranya S

Keywords : Inborn error of metabolism, Tricyclic acid (TCA), L2 hydroxyglutaric Aciduria

Citation Information : G MP, S PR, S MS. Case Report On L2 Hydroxy Glutaric Aciduria: A Disorder of Protein and Amino Acid Metabolism. 2018; 11 (3):34-39.

DOI: 10.5005/pjn-11-3-34

License: CC BY-NC 4.0

Published Online: 01-06-2013

Copyright Statement:  Copyright © 2018; The Author(s).


Abstract

Inborn errors of metabolism are a large group of hereditary biochemical disease in which specific gene mutations cause abnormal (or) missing proteins that lead to alter function. Inborn error of metabolism occurs from a group a rare genetic disorder in which the body cannot metabolize food components normally. Here we report a case of L2 Hydroxyglutaricaciduria, a rare inherited genetic disorder that affects TCA cycle and the child presented with typical symptoms such as seizure, hypotonia and global developmental delay.1


PDF Share
  1. Suraj Gupta, “The Short Text on Pediatric Nursing”, 9th Edition, 2014, Published by Jaypee Brothers Medical Publishers (p) Ltd, New Delhi.pg no.226-28.
  2. Kleigman Nelson et.al, “Textbook of Pediatrics” 17th edition, 2004, published by Elsevier, a Division of reed Elsevier India (P) Ltd. New Delhi. Pg. no.1756-60.
  3. Robert E. Nickel & Larry W. Derch, “The Physican's Guide to caring for children and chronic condition” 1st edition, 2000. Published by Paul Brokes publishing company, Maryland. Pg no. 289-91.
  4. Struys EA, Salomons GS, Achouri Y, Van Schaftingen E, Grosso S, Craigen WJ, Verhoeven NM, Jakobs C (Jan 2005). “Mutations in the D-2-hydroxyglutarate dehydrogenase gene cause D-2- hydroxy glutaric aciduria”. Hum Genet. 76 (2): 358-60. doi: 10.1086/427890. PMC 1196381. PMID 15609246.
  5. Genetic Home reference, “your guide to understanding genetic condition”, published by NIH, U.S.National Library of Medicine, December 2017. Available at URL: https://ghr.nlm.nih.gov/condition/2-hydroxyglutaric-aciduria#statistics.
PDF Share
PDF Share

© Jaypee Brothers Medical Publishers (P) LTD.