Main clinical features
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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 |