Glutamine deficiency syndrome

Evidence-based neurology checklist on glutamine deficiency syndrome: Clinical features Respiratory insufficiency Hypotonia Intractable seizures Erythematous and necrolytic skin lesions Chronic encephalopathy Psychomotor impairment Mild hyperammonemia Magnetic resonance imaging (MRI) brain:…

Clinical features

  • Respiratory insufficiency
  • Hypotonia
  • Intractable seizures
  • Erythematous and necrolytic skin lesions
  • Chronic encephalopathy
  • Psychomotor impairment
  • Mild hyperammonemia

Magnetic resonance imaging (MRI) brain: features

Amino acid analysis

Treatment

References

  1. de Koning TJ. Amino acid synthesis deficiencies. J Inherit Metab Dis 2017; 40:609-620.
  2. Häberle J, Shahbeck N, Ibrahim K, Hoffmann GF, Ben-Omran T. Natural course of glutamine synthetase deficiency in a 3 year old patient. Mol Genet Metab 2011; 103:89-91.

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