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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Asparagine synthetase deficiency is caused by mutations in a gene called ASNS. This gene provides instructions for making an enzyme called asparagine synthetase. This enzyme is found in cells throughout the body, where it converts the protein building block (amino acid) aspartic acid to the amino acid asparagine.</p><p>In addition to being a component of proteins, asparagine helps to break down toxic ammonia within cells, is important for protein modification, and is needed for making a molecule that transmits signals in the brain (a neurotransmitter). Mutations in the ASNS gene that cause asparagine synthetase deficiency lead to a decrease or loss of functional enzyme. Asparagine from the diet likely makes up for the enzyme&#x27;s inability to produce the amino acid in most cells. However, asparagine cannot cross the protective barrier that allows only certain substances to pass between blood vessels and the brain (the blood-brain barrier). As a result, brain cells in people with asparagine synthetase deficiency have a shortage (deficiency) of this amino acid. The exact effect of asparagine synthetase deficiency on brain cells is unknown, but because of the severe features of this condition, it is clear that asparagine is necessary for normal brain development.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/asparagine-synthetase-deficiency/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Asparagine synthetase deficiency?"},{"bodyHtml":"<p>Most individuals with asparagine synthetase deficiency have exaggerated reflexes (hyperreflexia) and weak muscle tone (hypotonia). The muscle problems worsen through childhood and lead to muscle stiffness, uncontrolled movements, and ultimately, paralysis of the arms and legs (spastic quadriplegia). Many affected individuals also have recurrent seizures (epilepsy). Not all affected people experience the same type of seizure. The most common types involve a loss of consciousness, muscle rigidity, and convulsions (tonic-clonic); involuntary muscle twitches (myoclonic); or abnormal muscle contraction (tonic). People with asparagine synthetase deficiency may have an exaggerated startle reaction (hyperekplexia) to unexpected stimuli. Some affected individuals have blindness due to impairment of the area of the brain responsible for processing vision, called the occipital cortex (cortical blindness).</p><p>People with asparagine synthetase deficiency typically do not survive past childhood.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/asparagine-synthetase-deficiency\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"asparagine-synthetase-deficiency","sourceDocuments":[{"name":"Asparagine synthetase deficiency","reviewed":"2018-11","sections":{"causes":{"fetchedAt":"2026-10-20T20:19:31.088965+00:00","label":"Causes","pageSha256":"6eb9c9674064e05595738e4d1ec2433e0e683be2e20fa0bda738a063828f3688","sourceUrl":"https://medlineplus.gov/genetics/condition/asparagine-synthetase-deficiency/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/asparagine-synthetase-deficiency"}],"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":"Asparagine synthetase deficiency"},"schemaVersion":1}