Glutamine deficiency- congenital

Overview

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.

Symptoms Hide

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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