Asparagine synthetase deficiency is a severe neurological disorder
Symptoms begin during pregnancy or at birth and include a small head size, severe developmental delay, atypical brain function that gets worse over time, degeneration of the brain tissue, difficult-to-control seizures, and muscle stiffness of all four limbs. Asparagine synthetase deficiency is a more recently discovered disorder therefore information is limited now.
Asparagine synthetase deficiency is caused by pathogenic (disease-causing) variants in the ASNS gene and exhibits autosomal recessive inheritance. This means that both parents must be carriers to have a 25% chance to have a child with the condition.
Other names for this condition are ASNS deficiency, congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome, and disorder of asparagine metabolism.
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Revised July 2023
