Asparagine deficiency syndrome
Evidence-based neurology checklist on asparagine deficiency syndrome: Pathological features This is caused by mutations in the ASNS gene on chromosome 7q It causes asparagine synthetase (aspartate-ammonia ligase) deficiency The transmission is autosomal recessive Clinical features Differential…
Pathological features
- This is caused by mutations in the ASNS gene on chromosome 7q
- It causes asparagine synthetase (aspartate-ammonia ligase) deficiency
- The transmission is autosomal recessive
Clinical features
Differential diagnosis
Magnetic resonance imaging (MRI) brain: features
Cerebrospinal fluid (CSF) analysis
References
- Ben-Salem S, Gleeson JG, Al-Shamsi AM, et al. Asparagine synthetase deficiency detected by whole exome sequencing causes congenital microcephaly, epileptic encephalopathy and psychomotor delay. Metab Brain Dis 2015; 30:687-694.
- Sacharow SJ, Dudenhausen EE, Lomelino CL, et al. Characterization of a novel variant in siblings with asparagine synthetase deficiency. Mol Genet Metab 2018; 123:317-325.
- Seidahmed MZ, Salih MA, Abdulbasit OB, et al. Hyperekplexia, microcephaly and simplified gyral pattern caused by novel ASNS mutations, case report. BMC Neurol 2016; 16:105.
- Alfadhel M, Alrifai MT, Trujillano D, et al. Asparagine synthetase deficiency: new inborn errors of metabolism. JIMD Rep 2015; 22:11-16.
- Alrifai MT, Alfadhel M. Worsening of seizures after asparagine supplementation in a child with asparagine synthetase deficiency. Pediatr Neurol 2016; 58:98-100.
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