Succinic Semialdehyde Dehydrogenase DeficiencySymptoms, Doctors, Treatments, Advances & More
Succinic Semialdehyde Dehydrogenase Deficiency Overview
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 practicing medicine in Boston, Massachusetts. Dr. Pearl is rated as an Elite provider by MediFind in the treatment of Succinic Semialdehyde Dehydrogenase Deficiency. He is also highly rated in 41 other conditions, according to our data. His clinical expertise encompasses Succinic Semialdehyde Dehydrogenase Deficiency, Epilepsy, Epilepsy in Children, and Seizures. Dr. Pearl is board certified in Pediatrics, Neurology With Special Qualifications In Child Neurology, Clinical Neurophysiology, Neurodevelopmental Disabilities, and Epilepsy.
Department Of Neurology
Alexander Rotenberg is a Neurologist practicing medicine in Boston, Massachusetts. Dr. Rotenberg is rated as an Elite provider by MediFind in the treatment of Succinic Semialdehyde Dehydrogenase Deficiency. He is also highly rated in 26 other conditions, according to our data. His clinical expertise encompasses Seizures, Succinic Semialdehyde Dehydrogenase Deficiency, Epilepsy, Generalized Tonic-Clonic Seizure, and Deep Brain Stimulation.
Itay Latzer-Tokatly practices practicing medicine in Tel Aviv, Israel. Mr. Latzer-Tokatly is rated as a Distinguished expert by MediFind in the treatment of Succinic Semialdehyde Dehydrogenase Deficiency. He is also highly rated in 5 other conditions, according to our data. His clinical expertise encompasses Succinic Semialdehyde Dehydrogenase Deficiency, Epilepsy, Epilepsy in Children, and Seizures.
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