Glutaric Acidemia Type 2 Overview
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.
The Milton S Hershey Medical Center Physicians Group
David Richard is a Family Medicine provider in Harrisburg, Pennsylvania. Dr. Richard and is rated as an Advanced provider by MediFind in the treatment of Glutaric Acidemia Type 2. His top areas of expertise are Coronary Heart Disease, Atherosclerosis, Marginal Zone Lymphoma (MZL), and Glutaric Acidemia Type 2.
Geisinger Clinic
Andrea Seeley is a Pediatrics provider in Danville, Pennsylvania. Dr. Seeley has been practicing medicine for over 16 years and is rated as an Advanced provider by MediFind in the treatment of Glutaric Acidemia Type 2. Her top areas of expertise are Glutaric Acidemia Type 2, Beta-Ketothiolase Deficiency, Fountain Syndrome, and Acrodysostosis.
Geisinger Clinic
Mark Lentz is an Internal Medicine provider in Danville, Pennsylvania. Dr. Lentz has been practicing medicine for over 40 years and is rated as an Advanced provider by MediFind in the treatment of Glutaric Acidemia Type 2. His top areas of expertise are Anaplastic Thyroid Cancer, Maturity Onset Diabetes of the Young, Glutaric Acidemia Type 2, and Type 2 Diabetes (T2D).
Summary: Inborn errors of metabolism (IEM) are not have specific clinical signs, they masquerade as other diseases, and are difficult to diagnose using only clinical manifestations or routine laboratory tests. IEM most commonly manifest in early infancy and childhood. Despite the fact that most IEM are rare in the population, they occupy one of the first places in the structure of childhood pathology, earl...
Published Date: February 01, 2014
Published By: National Institutes of Health