Saccharopine dehydrogenase deficiency disease, also known as saccharopinuria, is a rare inherited metabolic disorder that affects the metabolism of the amino acid lysine. It is caused by a deficiency in the enzyme saccharopine dehydrogenase (SDH), which is responsible for breaking down the amino acid to produce alpha-ketoadipic acid.
Individuals with saccharopine dehydrogenase deficiency disease have an abnormal accumulation of saccharopine and its metabolic precursor, lysine, in their body tissues and fluids. This can lead to various symptoms and health problems.
The condition is typically characterized by neurological symptoms, including developmental delays, intellectual disability, seizures, and speech impairments. Some affected individuals may also experience muscular weakness, hypotonia (low muscle tone), and behavioral abnormalities.
Saccharopine dehydrogenase deficiency disease is inherited in an autosomal recessive manner, meaning that an affected individual must inherit two copies of the mutated gene, one from each parent, to develop the disorder. The gene responsible for this condition is called ALDH7A1.
Diagnosis of saccharopine dehydrogenase deficiency disease is typically based on clinical symptoms, biochemical testing, and genetic analysis. Treatment options are limited and mainly focused on managing the symptoms. This may include dietary modifications to restrict the intake of lysine and supplementation of specific vitamins and cofactors.
Overall, saccharopine dehydrogenase deficiency disease is a complex metabolic disorder that requires comprehensive management and support to mitigate its effects on an individual's physical and cognitive development.
