Asparagine Synthetase Deficiency (ASNSD) is a neurometabolic disease caused by the lack of the enzyme asparagine synthetase. The lack of this enzyme caused progressive microcephaly, epilepsy, spastic quadriplegia, and cortical visual impairment. The gene which creates the asparagine synthetase enzyme is located on chromosome 7. A person with one mutated copy is unaffected, but if a person has both copies mutated then they are affected. The disorder is autosomal recessive, which means that two carriers have a 25% chance of having a child with the disease. The prognosis for ASNSD is poor, with most affected cases dying in childhood. ASNSD is rare, with only a handful of cases reported in medical literature.
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