What is Succinic semialdehyde dehydrogenase deficiency
Succinic semialdehyde dehydrogenase deficiency description. Find out what Succinic semialdehyde dehydrogenase deficiency is and know more about it.
Succinic semialdehyde dehydrogenase deficiency (SSADH deficiency) is a rare genetic disorder that affects the metabolism of a neurotransmitter called gamma-aminobutyric acid (GABA). GABA is responsible for regulating brain activity and maintaining a balance between excitation and inhibition.
Individuals with SSADH deficiency have a mutation in the ALDH5A1 gene, which leads to a deficiency in the enzyme succinic semialdehyde dehydrogenase. This enzyme is crucial for the breakdown of succinic semialdehyde, a byproduct of GABA metabolism.
The lack of functional enzyme results in the accumulation of succinic semialdehyde and GABA in the body. This buildup can lead to various neurological symptoms, including developmental delays, intellectual disability, seizures, hypotonia (low muscle tone), and behavioral problems.
Diagnosis of SSADH deficiency is typically done through genetic testing and analysis of urine organic acids. While there is no cure for this condition, treatment focuses on managing symptoms and improving quality of life. This may involve medications to control seizures, physical and occupational therapy, and supportive care.
Research is ongoing to better understand SSADH deficiency and develop potential therapies to address the underlying metabolic dysfunction.
