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References OMIM Gene GeneReviews HGMD HGNC
last update : 17-11-2016
Symbol NAXED
Location 1q23.1
Name NAXE deficiency
Corresponding gene NAXE
Main clinical features
  • disorder of metabolite repair, with sub- acute-onset ataxia, cerebellar edema, spinal myelopathy, and skin lesions
  • lactate was elevated in cerebrospinal fluid of all affected individuals
  • disease onset was during the second year of life and clinical signs as well as episodes of deterioration were triggered by febrile infections; disease course was rapidly progressive, leading to coma, global brain atrophy, and finally to death
  • NAXE levels were undetectable in fibroblasts from affected individuals
  • Genetic determination autosomal recessive
    Function/system disorder mental retardation
    Type disease