Saccharopinuria

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Saccharopinuria is a rare genetic disorder that affects the metabolism of amino acids, particularly lysine. It is caused by a deficiency of the enzyme lysine-ketoglutarate reductase, which is responsible for the breakdown of saccharopine, an intermediate in lysine metabolism.

The accumulation of saccharopine and its byproducts in the body can lead to a range of symptoms, including intellectual disability, developmental delays, seizures, hypotonia (low muscle tone), and behavioral problems.

Saccharopinuria is inherited in an autosomal recessive pattern, which means that an affected individual must inherit two copies of the mutated gene, one from each parent. Treatment for saccharopinuria is largely symptomatic and may include a low-lysine diet, vitamin and mineral supplements, and medications to manage seizures or behavioral problems.