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


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).


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

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  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.
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