This website provides information on patients with mutations in the DLD gene, including clinical data, molecular data, management and research options.

Mutations in the DLD gene lead to dihydrolipoamide dehydrogenase (LADH- or E3-) deficiency, a multisystem disorder characterized by episodes of metabolic decompensation (lactic acidosis, hypoglycemia, hyperammonemia), neurological, cardiovascular symptoms, liver failure, and/or myopathy. Clinical manifestations are diverse; not all individuals with a mutation in the DLD gene present all the symptoms that have been associated with the disease.

This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the DLD gene.

Attila Ambrus, PhD, DSc, Department of Biochemistry, Institute of Biochemistry and Molecular Biology, Semmelweis University, Budapest, Hungary, ambrus.attila@med.semmelweis-univ.hu

László Tretter, MD, PhD, DSc, Department of Biochemistry, Institute of Biochemistry and Molecular Biology, Semmelweis University, Budapest, Hungary, tretter.laszlo@med.semmelweis-univ.hu

Eszter Szabó, PharmD, PhD, Department of Biochemistry, Institute of Biochemistry and Molecular Biology, Semmelweis University, Budapest, Hungary, szabo.eszter1@med.semmelweis-univ.hu