What is the prevalence of Succinic semialdehyde dehydrogenase deficiency?
How many people does Succinic semialdehyde dehydrogenase deficiency affect? Does it have the same prevalence in men and women? And in the different countries?
Succinic semialdehyde dehydrogenase deficiency is a rare metabolic disorder characterized by the impaired breakdown of a neurotransmitter called gamma-aminobutyric acid (GABA). It is an autosomal recessive condition caused by mutations in the ALDH5A1 gene. The exact prevalence of this disorder is unknown, but it is considered extremely rare. Due to its rarity, there is limited data available on the number of affected individuals worldwide. Early diagnosis and appropriate management are crucial for individuals with this condition to prevent potential neurological and developmental complications.
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.
