Learn About Glutaric Acidemia Type 2
Glutaric acidemia type II is an inherited disorder that interferes with the body's ability to break down proteins and fats to produce energy. Incompletely processed proteins and fats can build up in the body and cause the blood and tissues to become too acidic (metabolic acidosis).
Mutations in any of three genes, ETFA, ETFB, and ETFDH, can result in glutaric acidemia type II. The ETFA and ETFB genes provide instructions for producing two protein segments, or subunits, that come together to make an enzyme called electron transfer flavoprotein. The ETFDH gene provides instructions for making another enzyme called electron transfer flavoprotein dehydrogenase.
Glutaric acidemia type II is a very rare disorder; its precise incidence is unknown. It has been reported in several different ethnic groups.
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.
Sara Missaglia practices in Milan, Italy. Ms. Missaglia is rated as an Elite expert by MediFind in the treatment of Glutaric Acidemia Type 2. Her top areas of expertise are Glutaric Acidemia Type 2, Chanarin-Dorfman Syndrome, Enlarged Liver, and Lymphedema-Distichiasis Syndrome.
Corrado Angelini practices in Padova, Italy. Mr. Angelini is rated as an Elite expert by MediFind in the treatment of Glutaric Acidemia Type 2. His top areas of expertise are Limb-Girdle Muscular Dystrophy, Myotonic Dystrophy, Myotonic Dystrophy Type 2, Paramyotonia Congenita, and Heart Transplant.
Pediatric Pulmonology
Mohamed Y. Ahmed, MD, finds great fulfillment in providing quality care to children facing critical health challenges, and he takes pride in being an integral part of a dedicated team that supports young patients and their families. He says, “It’s important to me that every patient and their family receive the best care possible, which starts with understanding the unique concerns and challenges each patient faces.” Dr. Ahmed is captivated by the beauty of the Appalachian Highlands and the kindness of the people he meets here. Dr. Ahmed is rated as an Experienced provider by MediFind in the treatment of Glutaric Acidemia Type 2. His top areas of expertise are HIV/AIDS, Hypertension, Gallbladder Disease, Osteotomy, and Bone Marrow Aspiration.
Published Date: February 01, 2014
Published By: National Institutes of Health