Abstract
Diagnosis and Genetic Analysis of Glutaric Acidaemia Type I: Very rarely seen inborn error of metabolism.
Highlights
A 10-month-old female child with delayed milestones presented to the genetic clinic of the Fernandez Hospital in Hyderabad, India, in January 2008
Sanger sequencing of the glutaryl-coenzyme A dehydrogenase (GCDH) gene revealed that the child had a homozygous mutation c.1119T>G
Had the genetic testing revealed that their second child did have a homozygous mutation, the option of terminating the pregnancy would have been discussed with the parents
Summary
A 10-month-old female child with delayed milestones presented to the genetic clinic of the Fernandez Hospital in Hyderabad, India, in January 2008. Sanger sequencing of the glutaryl-coenzyme A dehydrogenase (GCDH) gene revealed that the child had a homozygous mutation c.1119T>G
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