Alpha aminoadipic semialdehyde deficiency disease is a rare genetic disorder that affects the metabolism of the amino acid lysine. It is characterized by the insufficient production or malfunctioning of an enzyme called alpha-aminoadipic semialdehyde dehydrogenase (antiquitin).
This metabolic disorder is inherited in an autosomal recessive pattern, meaning that an individual must inherit two copies of the mutated gene in order to develop the disease. The specific gene affected is called the ALDH7A1 gene, which provides instructions for making the antiquitin enzyme.
The lack or malfunctioning of the antiquitin enzyme results in an accumulation of alpha-aminoadipic semialdehyde, a toxic molecule, in the body. As a consequence, certain chemical reactions are disrupted, leading to a wide range of symptoms. These can include developmental delays, intellectual disability, seizures, abnormal muscle tone, and movement disorders.
The exact prevalence of alpha aminoadipic semialdehyde deficiency disease is unknown, but it is considered to be a very rare disorder. Its diagnosis is often challenging due to its rarity and the variability of symptoms. Genetic testing can confirm the presence of mutations in the ALDH7A1 gene.
Treatment for this condition aims to manage the symptoms and prevent complications. It may include antiepileptic medications to control seizures, physical and occupational therapy to improve motor skills, speech therapy to address speech delays or difficulty, and special education to support developmental delays. Genetic counseling is also important for affected individuals and their families to understand the inheritance pattern and potential risks in future pregnancies.
