Clinical and Metabolic Profile of Glutaric Aciduria Type 1 from North India: Tertiary Centre Experience
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 cas...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
JCDR Research and Publications Private Limited
2017-11-01
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| Series: | Journal of Clinical and Diagnostic Research |
| Subjects: | |
| Online Access: | https://jcdr.net/articles/PDF/10834/30976_121017_30976_CE(RA1)_F(T)_PF1(AA_GG)_PFA(MJ_GG).pdf |
| Summary: | 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. |
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| ISSN: | 2249-782X 0973-709X |