Journal of Clinical and Diagnostic Research, ISSN - 0973 - 709X

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Original article / research
Year : 2017 | Month : November | Volume : 11 | Issue : 11 | Page : SC01 - SC04

Clinical and Metabolic Profile of Glutaric Aciduria Type 1 from North India: Tertiary Centre Experience

Ankur Singh, Rajniti Prasad, Seema Kapoor, Om Prakash Mishra

1. Assistant Professor, Department of Paediatrics, IMS-BHU, Varanasi, Uttar Pradesh, India. 2. Director Professor, Department of Paediatrics, MAMC, New Delhi, India. 3. Professor, Department of Paediatrics, IMS-BHU, Varanasi, Uttar Pradesh, India. 4. Professor, Department of Paediatrics, IMS-BHU, Varanasi, Uttar Pradesh, India.

Correspondence Address :
Dr. Ankur Singh,
Assistant Professor, Department of Paediatrics, IMS-BHU, Varanasi-221005, Uttar Pradesh, India.
E-mail: pediaankur@gmail.com

Abstract

Introduction: Glutaric aciduria type 1 is caused by deficiency of glutaryl-CoA dehydogenase leading to accumulation of glutarylcarnitine in blood and excretion of glutaric acid, 3-hyroxyglutaric acid and glutaconic acid in urine. It can be diagnosed through high risk screening in symptomatic cases.

Aim: To know the clinical, biochemical, neuroimaging and outcome profile of Glutaric aciduria type 1 patient diagnosed during testing by Tandem Mass Spectrometry (TMS) and Gas Chromatography and Mass Spectrometry (GCMS).

Materials and Methods: It was retrospective record analysis of patients diagnosed with Glutaric aciduria type 1. 2000 patients were screened for various indications like (developmental delay/ regression, unexplained seizures, encephalopathy, dystonia, chorea, large head, unexplained sibling death). Screening strategy involved estimation of lactate, ammonia, TMS and GCMS. Neuroimaging was done where it was required. This study was conducted over a period of three years (January 2014 to December 2016).

Results: Study group comprised of 10 males and 3 females. Median age (interquartile range) of presentation in study group was 11 months (10-22.5). Pretesting diagnosis was suspected as inborn error of metabolism in each case based on clinical presentation. Seizure and dystonia were important clinical presentation. Frontotemporal atrophy was important neuroimaging finding. Macrocephaly was present in two of thirteen cases. Glutarylcarnitine level was normal in 5 of 11 patients, suggesting poor sensitivity of TMS in diagnosed cases. There was wide variation in excretion of urinary metabolite from cases to cases, highlighting genetic heterogenousity.

Conclusion: Seizures and dystonia were important clinical presentations. Presence of bilateral frontotemporal atrophy in clinical testing was an important clue to diagnosis. Presence of macrocephaly (important sign of disease) was present in only two cases. There was only one death in follow up.

Keywords

Glutaryl-CoA dehydrogenase gene, Glutaryl-CoA dehydrogenase/deficiency, Metabolic brain diseases

How to cite this article :

Ankur Singh, Rajniti Prasad, Seema Kapoor, Om Prakash Mishra. CLINICAL AND METABOLIC PROFILE OF GLUTARIC ACIDURIA TYPE 1 FROM NORTH INDIA: TERTIARY CENTRE EXPERIENCE. Journal of Clinical and Diagnostic Research [serial online] 2017 November [cited: 2018 Jan 19 ]; 11:SC01-SC04. Available from
http://www.jcdr.net/back_issues.asp?issn=0973-709x&year=2017&month=November&volume=11&issue=11&page=SC01-SC04&id=10834

DOI and Others

DOI: 10.7860/JCDR/2017/30976.10834

Date of Submission: Jun 19, 2017
Date of Peer Review: Jul 05, 2017
Date of Acceptance: Sep 30, 2017
Date of Publishing: Nov 01, 2017

FINANCIAL OR OTHER COMPETING INTERESTS: None.

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