Clinical, biochemical, molecular and therapeutic characteristics of four new patients of mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency.

Abstract excerpt

Thirty patients with mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase (HMGCS) deficiency, which is a rare autosomal recessive disorder caused by HMGCS2 gene mutation are known. Here, we present four new patients with this disease. The characteristics including several metabolites of patients were recorded. Next-generation targeted sequencing and multiple sequence alignment of PCR amplified products allowed...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Acyl Coenzyme A
• Share to DNA Mutational Analysis