Succinic semialdehyde dehydrogenase deficiency synonyms
What other names are the Succinic semialdehyde dehydrogenase deficiency known by? Synonyms and other terms with which Succinic semialdehyde dehydrogenase deficiency is known.
Succinic semialdehyde dehydrogenase deficiency synonyms:
Succinic semialdehyde dehydrogenase deficiency is a rare genetic disorder that affects the metabolism of the neurotransmitter gamma-aminobutyric acid (GABA). It is also known by several other names, including:
- Succinic semialdehyde dehydrogenase (SSADH) deficiency
- 4-hydroxybutyric aciduria
- γ-hydroxybutyric aciduria
- SSADHD
- SSADH deficiency
These terms are used interchangeably to describe the same condition.
Succinic semialdehyde dehydrogenase deficiency is an autosomal recessive disorder, meaning that an individual must inherit two copies of the defective gene (one from each parent) to develop the condition. The gene responsible for this disorder is called ALDH5A1, and mutations in this gene lead to a deficiency in the enzyme succinic semialdehyde dehydrogenase.
Succinic semialdehyde dehydrogenase is an enzyme that plays a crucial role in the breakdown of GABA, a neurotransmitter involved in regulating brain activity. Without sufficient levels of this enzyme, succinic semialdehyde accumulates in the body, leading to a variety of symptoms and health problems.
Individuals with succinic semialdehyde dehydrogenase deficiency may experience a range of symptoms, including developmental delay, intellectual disability, seizures, hypotonia (low muscle tone), ataxia (lack of muscle coordination), and behavioral problems. The severity and specific symptoms can vary widely among affected individuals.
Early diagnosis and management of succinic semialdehyde dehydrogenase deficiency are important to optimize outcomes for affected individuals. Treatment typically involves a combination of medications, dietary modifications, and supportive therapies to manage symptoms and improve quality of life.
