Article
The M405V allele of the glutaryl-CoA dehydrogenase gene is an important marker for glutaric aciduria type I (GA-I) low excretors.
Molecular genetics and metabolism - 1 Sept 2016
Schillaci Lori-Anne P, Greene Carol L, Strovel Erin, Rispoli-Joines Jessica, Spector Elaine, Woontner Michael, Scharer Gunter, Enns Gregory M, Gallagher Renata, Zinn Arthur B, McCandless Shawn E, Hoppel Charles L, Goodman Stephen I, Bedoyan Jirair K
Abstract excerpt
Glutaric aciduria type I (GA-I) is an autosomal recessive organic aciduria resulting from a functional deficiency of glutaryl-CoA dehydrogenase, encoded by GCDH. Two clinically indistinguishable diagnostic subgroups of GA-I are known; low and high excretors (LEs and HEs, respectively). Early medical and dietary interventions can result in significantly better outcomes and improved quality of life for patients...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.