Saccharopine dehydrogenase deficiency disease, also known as saccharopinuria, is a rare inherited disorder that affects the metabolism of the amino acid lysine. This condition is caused by a deficiency of the enzyme saccharopine dehydrogenase, which is essential in the breakdown of lysine in the body. Synonyms for this condition include saccharopinemia and saccharopinurea. Individuals with this genetic disorder may experience a range of symptoms including intellectual disability, developmental delays, seizures, and abnormal physical features. Early diagnosis and management through dietary interventions and medical support are crucial for individuals living with saccharopine dehydrogenase deficiency disease.