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 |
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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 |