Patologia metabolica. Inquadramento clinico neurologico

Translated title of the contribution: Metabolic disease. Clinical and neurological features

E. Veneselli

Research output: Contribution to journalArticlepeer-review


We review the guidelines for the clinical and neurological classification of metabolic disease. The initial physiopathological classification includes: 1) disorders due to isolated impairment of a functional or anatomic system; 2) disorders secondary to impairment of the metabolic pathways common to many cells and organs caused by a) impaired synthesis or catabolism of complex molecules, b) impaired intermediate metabolism with features of toxicity, c) impaired intermediate metabolism with energy deficit. When metabolic disease is suspected because of the patient's family history, additional diagnostic criteria include age at onset, evolution, triggering events, associated extraneurological disease, key neurological signs and symptoms. In addition to laboratory tests, electrophysiological and neuroradiological investigation is essential together with evaluation of clinical findings in patients with neurological syndromes to narrow the range of possible diseases. Neurophysiological tests include EEG, EMG, nerve conduction velocity, visual, brain stem auditory and somatosensory evoked potentials and electroretinogram. These tests offer aspecific information on certain diseases and will identify or differentiate poliodystrophic and leukodystrophic disease. We review the diagnostic guidelines for some conditions such as progressive myoclonic epilepsies, disorders associated with peripheral neuropathy and mitochondrial disease. In some forms identification of the metabolic origin may prove arduous as in cases presenting with the clinical and laboratory features of anoxoischaemic encephalopathy or cerebral malformations. An overall assessment of clinical and laboratory findings together with literature reports have led to major advances in the diagnosis of this complex array of diseases.

Translated title of the contributionMetabolic disease. Clinical and neurological features
Original languageItalian
Pages (from-to)761-767
Number of pages7
JournalRivista di Neuroradiologia
Issue number6
Publication statusPublished - 1996

ASJC Scopus subject areas

  • Clinical Neurology
  • Radiology Nuclear Medicine and imaging
  • Radiological and Ultrasound Technology


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