Succinic semialdehyde dehydrogenase deficiency (SSADH deficiency) is a rare autosomal recessive disorder that affects the metabolism of the neurotransmitter gamma-aminobutyric acid (GABA). It is caused by mutations in the ALDH5A1 gene, which encodes the enzyme succinic semialdehyde dehydrogenase.
The exact prevalence of SSADH deficiency is not well-established due to its rarity and underdiagnosis. However, it is estimated to affect approximately 1 in 250,000 to 1 in 1,000,000 individuals worldwide. The disorder has been reported in various ethnic groups, suggesting no specific racial or ethnic predisposition.
SSADH deficiency typically presents in early childhood, with symptoms including developmental delay, intellectual disability, hypotonia, ataxia, and seizures. However, the severity and specific symptoms can vary widely among affected individuals.
Diagnosis of SSADH deficiency involves clinical evaluation, biochemical testing, and genetic analysis. Treatment primarily focuses on managing symptoms and may include medications to control seizures and improve neurological function.
Research efforts are ongoing to better understand the prevalence, underlying mechanisms, and potential therapeutic approaches for SSADH deficiency. Early diagnosis and intervention are crucial in improving the quality of life for individuals affected by this rare disorder.