Glutaric Acidemia Type 1Symptoms, Doctors, Treatments, Advances & More
Glutaric Acidemia Type 1 Overview
Learn About Glutaric Acidemia Type 1
Glutaric acidemia type I (also called glutaric aciduria type I) is an inherited disorder in which the body is unable to process certain proteins properly. It is classified as an organic acid disorder, which is a condition that leads to an abnormal buildup of particular acids known as organic acids. Abnormal levels of organic acids in the blood (organic acidemia), urine (organic aciduria), and tissues can be toxic and can cause serious health problems.
Mutations in the GCDH gene cause glutaric acidemia type I. The GCDH gene provides instructions for making the enzyme glutaryl-CoA dehydrogenase. This enzyme is involved in processing the amino acids lysine, hydroxylysine, and tryptophan.
Glutaric acidemia type I occurs in approximately 1 in 100,000 individuals. It is much more common in the Amish community and in the Ojibwa population of Canada, where up to 1 in 300 newborns may be affected.
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.
Nikolas Boy practices practicing medicine in Maulbronn, Germany. Mr. Boy is rated as an Elite expert by MediFind in the treatment of Glutaric Acidemia Type 1. He is also highly rated in 1 other condition, according to our data. His clinical expertise encompasses Glutaric Acidemia Type 1, Drug Induced Dyskinesia, Urea Cycle Disorders (UCD), and Homocystinuria due to MTHFR Deficiency.
ETSU Physicians & Associates- Pediatrics
. Dr. Russi is rated as an Experienced provider by MediFind in the treatment of Glutaric Acidemia Type 1. He is also highly rated in 125 other conditions, according to our data. His clinical expertise encompasses Increased Head Circumference, Ehlers-Danlos Syndrome (EDS), Chromosome 8p Deletion, and Chromosome 6q Duplication. Dr. Russi is board certified in American Board Of Pediatrics and American Board Of Medical Genetics.
State University Of Iowa
Amy Calhoun is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Iowa City, Iowa. Dr. Calhoun is rated as an Advanced provider by MediFind in the treatment of Glutaric Acidemia Type 1. She is also highly rated in 8 other conditions, according to our data. Her clinical expertise encompasses Wolf-Hirschhorn Syndrome, Otospondylomegaepiphyseal Dysplasia, MELAS Syndrome, and Costello Syndrome. Dr. Calhoun is currently accepting new patients.
Summary: Ammonia is a waste product of protein and amino acid catabolism and is also a potent neurotoxin. High blood ammonia levels on the brain can manifest as cytotoxic brain edema and vascular compromise leading to intellectual and developmental disabilities. The following aims are proposed: Aim 1 of this study will be to determine the chronology of biomarkers of brain injury in response to a hyperammon...
Published Date: September 01, 2019
Published By: National Institutes of Health