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 practicing medicine in Budapest, Hungary. Mr. Ambrus is rated as an Elite expert by MediFind in the treatment of Dihydrolipoamide Dehydrogenase Deficiency. He is also highly rated in 5 other conditions, according to our data. His clinical expertise encompasses Dihydrolipoamide Dehydrogenase Deficiency, Lactic Acidosis, Maple Syrup Urine Disease, and Hereditary Methemoglobinemia.
Eszter Szabo practices practicing medicine in Budapest, Hungary. Ms. Szabo is rated as an Elite expert by MediFind in the treatment of Dihydrolipoamide Dehydrogenase Deficiency. She is also highly rated in 1 other condition, according to our data. Her clinical expertise encompasses Dihydrolipoamide Dehydrogenase Deficiency.
C. S. Mott Children's Hospital
Shane Quinonez is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Ann Arbor, Michigan. Dr. Quinonez is rated as a Distinguished provider by MediFind in the treatment of Dihydrolipoamide Dehydrogenase Deficiency. He is also highly rated in 129 other conditions, according to our data. His clinical expertise encompasses Pompe Disease, Dihydrolipoamide Dehydrogenase Deficiency, MELAS Syndrome, and Propionic Acidemia. Dr. Quinonez is board certified in Pediatrics, Clinical Biochemical Genetics, and Clinical Genetics & Genomics.
Published Date: September 01, 2014
Published By: National Institutes of Health