July 2016

Recurrent mutation in the HMGCL gene in a family segregating HMG-CoA lyase deficiency

The gene HMGCL encodes 3-hydroxy-3-methylglutaryl-CoA (HMG-CoA) lyase. Mutations in HMG-CoA lyase cause HMG-CoA lyase deficiency (HMGCLD), which is an autosomal recessive congenital disorder of metabolism. This study was designed to detect mutation in the 3-hydroxy-3-methylglutaryl-CoA lyase (HMGCL) gene in a Saudi family segregating HMG-CoA lyase deficiency (HMGCLD).Methods: Clinical and molecular genetic analysis of a...

Author(s): Essa Alharby, Omhani Malibari, Hamad S. Al-Otaibi, Muhammad Saud, Ghadeer Al-Harbi, Mohammad I. Samman, and Sulman Basit