Article

Inherited neurometabolic disorders represent a growing group of inborn errors of
metabolism that present with major neurological symptoms or a complex spectrum of
symptoms dominated by central or peripheral nervous system dysfunction. Many
neurological presentations may arise from the same metabolic defect, especially
in autosomal-recessive inherited disorders. Motor neuron disease (MND), mainly
represented by amyotrophic lateral sclerosis, may also result from various inborn
errors of metabolism, some of which may represent potentially treatable
conditions, thereby emphasizing the importance of recognizing such diseases. The
present review discusses the most important neurometabolic disorders presenting
with motor neuron (lower and/or upper) dysfunction as the key clinical and
neuropathological feature.
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Langue : ANGLAIS