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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Variants (also called mutations) in the AASS gene cause both types of hyperlysinemia. The AASS gene provides instructions for making an enzyme called alpha-aminoadipic semialdehyde synthase. This enzyme performs two functions during the breakdown of lysine. First, the enzyme converts lysine to a molecule called saccharopine. This same enzyme also converts saccharopine to a molecule called alpha-aminoadipic semialdehyde.</p><p>The variants in the AASS gene that impair both the breakdown of lysine and the breakdown of saccharopine cause hyperlysinemia type I. The AASS gene variants that mostly impair the breakdown of saccharopine cause hyperlysinemia type II. Both type I and type II result in elevated levels of lysine in the blood. People with type II may also have elevated levels of saccharopine in the urine.</p><p>Researchers are not sure why some people with hyperlysinemia have signs and symptoms, while others are asymptomatic. It is also unclear how higher levels of lysine in the blood cause the signs and symptoms seen in some people with hyperlysinemia. More research is needed to fully understand the effects of hyperlysinemia on the body.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/hyperlysinemia/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Hyperlysinemia?"},{"bodyHtml":"<p>The signs and symptoms of hyperlysinemia can vary widely, even among members of the same family. The features that have been reported in people with hyperlysinemia have included short stature, speech and language delays, intellectual disabilities, behavioral abnormalities, abnormal muscle stiffness (spasticity), and seizures. However, some researchers have suggested that as many as half of all people with hyperlysinemia are asymptomatic, which means that they do not have any signs or symptoms of the disorder. These people may not even be aware that they have the condition.</p><p>Because the signs and symptoms of hyperlysinemia can vary and because hyperlysinemia is very rare, it is difficult for researchers to determine whether these features are caused by the condition itself or by other factors.</p><p>People with a condition called 2,4-dienoyl-CoA reductase (DECR) deficiency may also have hyperlysinemia. Additional features of DECR deficiency may include an inability to grow and gain weight as expected (failure to thrive), developmental delays, abnormal brain function (encephalopathy), and eye abnormalities such as degeneration of the nerves that carry information from the eyes to the brain (optic atrophy).</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/hyperlysinemia\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"hyperlysinemia","sourceDocuments":[{"name":"Hyperlysinemia","reviewed":"2025-06","sections":{"causes":{"fetchedAt":"2026-10-20T20:22:18.966165+00:00","label":"Causes","pageSha256":"ca45e26d64512ba8f4ac5003747bd4a3b61a0e46788b3358037ce0e6edeb6480","sourceUrl":"https://medlineplus.gov/genetics/condition/hyperlysinemia/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/hyperlysinemia"}],"sourceNote":"MedlinePlus descriptions and Causes; original HPO annotations.","takeawayHtml":"Cause explanations are from MedlinePlus Genetics. Feature values below retain their original sources and patient groups.","title":"Hyperlysinemia"},"schemaVersion":1}