GLUTARIC ACIDEMIA TYPE 1: A CASE REPORT FROM PAKISTAN

GLUTARIC ACIDEMIA TYPE 1: A CASE REPORT FROM PAKISTAN

INTRODUCTION: Glutaric aciduria type 1 is a neurometabolic disorder occurring due to deficient activity of glutaryl-CoA dehydrogenase. Multiple neurotoxic metabolites start accumulating in plasma, CSF and urine which are detected by mass spectrometry. Early new-born screening plays an important role...

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Bibliographic Details
Main Authors: Noshaba Noor, Hira Waseem
Format: Article
Language:English
Published: Khyber Medical University 2022-03-01
Series:Khyber Medical University Journal
Subjects:
glutaric aciduria type i
multiple acyl coenzyme a dehydrogenase deficiency
new born screening
inborn error of metabolism
organic aciduria
organic academia
autosomal recessive
neurometabolic disorder
glutaric acidemia
Online Access:https://www.kmuj.kmu.edu.pk/article/view/21984

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