Glutamine deficiency- congenital


Glutamine deficiency, congenital: A rare genetic metabolic disorder characterized by a deficiency of the glutamine synthase enzyme. This results in a lack of glutamine in the serum, urine and brain and spinal fluid. The condition results in infant death within weeks of birth.

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The list of signs and symptoms mentioned in various sources for Glutamine deficiency, congenital includes the 16 symptoms listed below:

  • Severe brain malformations
  • Multiorgan failure
  • Neonatal death
  • Short limbs
  • Elbow flexion contractures
  • Knee flexion contractures
  • Camptodactyly
  • Ulnar deviation of hands
  • Flat nose root
  • Short nose
  • Antevereted nostrils
  • Thin lips
  • Low set ears
  • Reduced muscle tone
  • Severe diarrhea
  • Skin disorder

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