Dihydrolipoamide Dehydrogenase DeficiencySymptoms, Doctors, Treatments, Advances & More
Learn About Dihydrolipoamide Dehydrogenase Deficiency
Dihydrolipoamide dehydrogenase deficiency is a severe condition that can affect several body systems. Signs and symptoms of this condition usually appear shortly after birth, and they can vary widely among affected individuals.
Mutations in the DLD gene cause dihydrolipoamide dehydrogenase deficiency. This gene provides instructions for making an enzyme called dihydrolipoamide dehydrogenase (DLD). DLD is one component of three different groups of enzymes that work together (enzyme complexes): branched-chain alpha-keto acid dehydrogenase (BCKD), pyruvate dehydrogenase (PDH), and alpha (α)-ketoglutarate dehydrogenase (αKGDH). The BCKD enzyme complex is involved in the breakdown of three protein building blocks (amino acids) commonly found in protein-rich foods: leucine, isoleucine, and valine. Breakdown of these amino acids produces molecules that can be used for energy. The PDH and αKGDH enzyme complexes are involved in other reactions in the pathways that convert the energy from food into a form that cells can use.
Dihydrolipoamide dehydrogenase deficiency occurs in an estimated 1 in 35,000 to 48,000 individuals of Ashkenazi Jewish descent. This population typically has liver disease as the primary symptom. In other populations, the prevalence of dihydrolipoamide dehydrogenase deficiency is unknown, but the condition is likely rare.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Attila Ambrus practices in Budapest, Hungary. Mr. Ambrus is rated as an Elite expert by MediFind in the treatment of Dihydrolipoamide Dehydrogenase Deficiency. His top areas of expertise are Dihydrolipoamide Dehydrogenase Deficiency, Lactic Acidosis, Maple Syrup Urine Disease, and Hereditary Methemoglobinemia.
UPMC Children's Hospital Of Pittsburgh, Pediatric Transplant Services
George V. Mazariegos, MD, FACS, specializes in pediatric transplant surgery at UPMC Children’s Hospital of Pittsburgh. He is certified by the American College of Surgeons and is chief of Pediatric Transplantation at UPMC while holding the title of Jamie Lee Curtis Chair in Transplantation Surgery. He received his medical degree from Northwestern University Medical School, completed his residency at Michigan State University, followed by fellowships at UPMC in critical care medicine, and the Thomas E. Starzl fellowship in transplantation, hepatic, and multivisceral transplantation.Dr. Mazariegos’ clinical interests include treatment of pediatric patients who have liver and intestinal disease that require transplantation or hepatobiliary surgery. He is a member of the Society of University Surgeons, the American Surgical Association, and the Pediatric Committee of the International Liver Transplant Society. He and colleagues recently founded the Starzl Network for Excellence in Pediatric Transplantation, a learning health system focused on accelerating innovation and patient centered care in pediatric transplantation. Dr. Mazariegos lives in Oakland with his wife and three children.View Dr. Mazariegos's full list of publications from PubMed. Dr. Mazariegos is rated as an Advanced provider by MediFind in the treatment of Dihydrolipoamide Dehydrogenase Deficiency. His top areas of expertise are Crigler-Najjar Syndrome, Biliary Atresia, Short Bowel Syndrome, Liver Transplant, and Small Bowel Resection.
Corewell Health Grand Rapids Hospitals Biochemical Genetics - 25 Michigan St NE
Jessica Priestley is a Pediatrics specialist and a Medical Genetics provider in Grand Rapids, Michigan. Dr. Priestley has been practicing medicine for over 8 years and is rated as an Advanced provider by MediFind in the treatment of Dihydrolipoamide Dehydrogenase Deficiency. Her top areas of expertise are Fabry Disease, Biotinidase Deficiency, Ornithine Transcarbamylase Deficiency, and Megalencephalic Leukoencephalopathy with Subcortical Cysts.
Published Date: September 01, 2014
Published By: National Institutes of Health