Learn About Succinic Semialdehyde Dehydrogenase Deficiency
Succinic semialdehyde dehydrogenase deficiency is a disorder that can cause a variety of neurological problems. People with this condition typically have developmental delays, especially in speech development; intellectual disabilities; and decreased muscle tone (hypotonia) soon after birth. Communication problems may improve over time in people with this disorder.
Variants (also called mutations) in the ALDH5A1 gene cause succinic semialdehyde dehydrogenase deficiency. The ALDH5A1 gene provides instructions for producing the succinic semialdehyde dehydrogenase enzyme. This enzyme is involved in the breakdown of a chemical that transmits signals in the brain (neurotransmitter) called gamma-amino butyric acid (GABA). The primary role of GABA is to prevent the brain from being overloaded with too many signals.
Approximately 350 people with succinic semialdehyde dehydrogenase deficiency have been reported worldwide.
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.
C H Neurology Foundation Inc
Phillip Pearl is a Pediatrics provider in Boston, Massachusetts. Dr. Pearl is rated as an Elite provider by MediFind in the treatment of Succinic Semialdehyde Dehydrogenase Deficiency. His top areas of expertise are Succinic Semialdehyde Dehydrogenase Deficiency, Epilepsy, Epilepsy in Children, and Seizures.
C H Neurology Foundation Inc
Alexander Rotenberg is a Pediatric Neurologist and a Pediatrics provider in Boston, Massachusetts. Dr. Rotenberg is rated as an Elite provider by MediFind in the treatment of Succinic Semialdehyde Dehydrogenase Deficiency. His top areas of expertise are Seizures, Succinic Semialdehyde Dehydrogenase Deficiency, Epilepsy, and Generalized Tonic-Clonic Seizure. Dr. Rotenberg is currently accepting new patients.
Carolinas Hospitalist Group At Atrium Health University City
Salena Linberg is a Family Medicine provider in Charlotte, North Carolina. Dr. Linberg is rated as an Advanced provider by MediFind in the treatment of Succinic Semialdehyde Dehydrogenase Deficiency. Her top areas of expertise are X-Linked Creatine Deficiency, Succinic Semialdehyde Dehydrogenase Deficiency, GABA-Transaminase Deficiency, and Malonyl-CoA Decarboxylase Deficiency.
Summary: Succinic Semialdehyde Dehydrogenase deficiency (SSADHD) is a rare autosomal recessive disease that interferes with the catabolism of the major inhibitory neurotransmitter gamma-amino butyric acid (GABA) and furthermore leads to accumulation of various potential toxic metabolites, most prominently gamma hydroxybutyric acid (GHB). Current research indicates that there is developmental delay and sign...
Published Date: March 06, 2024
Published By: National Institutes of Health