Confirming LCFAOD Diagnosis Genetically is Important

Variants in HADHA and HADHB genes in patients with LCHAD deficiency and trifunctional protein (TFP) deficiency, led to different phenotypes, showing that genetically confirming the diagnosis is of the utmost importance.

This is according to a study in Molecular Genetics and Metabolism Reports, reviewed and edited by INFORM’s Jerry Vockley, MD, PhD.

Read more of the article here.