GM1 GangliosidosisSymptoms, Doctors, Treatments, Advances & More
Learn About GM1 Gangliosidosis
GM1 gangliosidosis is an inherited disorder that destroys nerve cells (neurons) in the brain and spinal cord. This condition can be classified as one of three major types based on the age at which signs and symptoms first appear. However, the signs and symptoms of these three types can overlap, leading some researchers to believe that GM1 gangliosidosis occurs on a spectrum instead of as three distinct types.
Variants (also called mutations) in the GLB1 gene cause GM1 gangliosidosis. The GLB1 gene provides instructions for making an enzyme called beta-galactosidase (β-galactosidase). This enzyme is found in lysosomes, which are compartments within cells that break down and recycle different types of molecules. β-galactosidase helps break down several molecules, including a substance called GM1 ganglioside. GM1 ganglioside is important for normal functioning of neurons in the brain.
GM1 gangliosidosis is estimated to occur in 1 in 100,000 to 200,000 newborns. Type I is reported more frequently than the other forms of this condition. Most individuals with type III are of Japanese descent.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell must have a variant to cause the disorder. The parents of an individual with an autosomal recessive condition each carry one copy of the altered gene, but they typically do not show signs and symptoms of the condition.
Children's National Hospital
Maria Acosta is a Pediatric Neurologist practicing medicine in Silver Spring, Maryland. Dr. Acosta is rated as an Elite provider by MediFind in the treatment of GM1 Gangliosidosis. She is also highly rated in 3 other conditions, according to our data. Her clinical expertise encompasses GM1 Gangliosidosis, Neurofibromatosis, Sandhoff Disease, and Autism Spectrum Disorder.
Cynthia Tifft is a Medical Genetics provider practicing medicine in Washington, Washington, D.c.. Dr. Tifft is rated as an Elite provider by MediFind in the treatment of GM1 Gangliosidosis. She is also highly rated in 11 other conditions, according to our data. Her clinical expertise encompasses Sandhoff Disease, Gangliosidosis, GM1 Gangliosidosis, and Tay-Sachs Disease.
Raymond Wang is a Medical Genetics provider practicing medicine in Orange, California. Dr. Wang is rated as a Distinguished provider by MediFind in the treatment of GM1 Gangliosidosis. He is also highly rated in 50 other conditions, according to our data. His clinical expertise encompasses Mucopolysaccharidoses (MPS), Mucopolysaccharidosis Type 7 (MPS VII, Sly Syndrome), Mucopolysaccharidosis Type 1 (MPS I, Hurler Syndrome), Pompe Disease, and Adenoidectomy.
Summary: An 18-month double-blind, randomized, placebo-controlled, multicenter, Phase 3 study to evaluate the safety and efficacy of oral nizubaglustat (AZ-3102) in late-infantile and juvenile forms of Niemann-Pick type C disease and in late-infantile and juvenile-onset forms of GM1 gangliosidosis or GM2 gangliosidosis
Summary: An 18-month double-blind, randomized, placebo-controlled, multicenter, Phase 3 study to evaluate the safety and efficacy of oral nizubaglustat (AZ-3102) in late-infantile and juvenile forms of GM1 gangliosidosis or GM2 gangliosidosis
Published Date: April 26, 2023
Published By: National Institutes of Health