Succinic semialdehyde dehydrogenase deficiency (SSADH deficiency) is a rare genetic disorder that affects the metabolism of a neurotransmitter called gamma-aminobutyric acid (GABA). It is caused by mutations in the ALDH5A1 gene, which is responsible for producing an enzyme called succinic semialdehyde dehydrogenase.
SSADH deficiency is an autosomal recessive disorder, meaning that an individual must inherit two copies of the mutated gene (one from each parent) to develop the condition. The gene mutations result in a deficiency or complete absence of the enzyme, leading to the accumulation of gamma-hydroxybutyric acid (GHB) and gamma-aminobutyric acid (GABA) in the body.
While SSADH deficiency is a genetic disorder, it is not contagious in any way. It cannot be transmitted from person to person through contact, respiratory droplets, or any other means of direct or indirect transmission. The condition is solely caused by genetic mutations and is not influenced by external factors or infectious agents.
SSADH deficiency is a neurological disorder that primarily affects the central nervous system. It can lead to a wide range of symptoms, including developmental delays, intellectual disability, seizures, hypotonia (low muscle tone), ataxia (lack of muscle coordination), and behavioral problems.
Diagnosis of SSADH deficiency is typically done through genetic testing, which can identify mutations in the ALDH5A1 gene. Treatment options for SSADH deficiency are currently limited, and management mainly focuses on symptom relief and supportive care.
In conclusion, Succinic semialdehyde dehydrogenase deficiency is a rare genetic disorder that affects the metabolism of GABA. It is not contagious and cannot be transmitted from person to person. SSADH deficiency is solely caused by genetic mutations and is not influenced by external factors or infectious agents.