Peripheral Neuropathy in Inherited Metabolic Disease

Marc C. Patterson, Alan K. Percy

Research output: Chapter in Book/Report/Conference proceedingChapter

1 Scopus citations


Peripheral neuropathy is associated with numerous inherited metabolic diseases, such as Fabry disease (trihexosylceramide lipidosis), in which it may be the presenting complaint, or adrenomyeloneuropathy, in which it may play a relatively minor role in contrast to the more prominent and progressive spastic paraparesis. In the mucopolysaccharidoses, neuropathy may represent a complication of the underlying storage disease, such as an entrapment neuropathy. This chapter describes the specific inherited metabolic disorders in which peripheral neuropathies are common. While the biochemical and molecular bases of these disorders are well established, effective treatment is quite elusive without specific therapies directed at the primary metabolic defect. In some cases, pharmacologic interventions may be helpful. The inherited metabolic diseases in which a peripheral neuropathy is prominent may be separated into several categories, including storage diseases, disorders of amino acid and fatty acid metabolism, and mitochondrial cytopathies.

Original languageEnglish (US)
Title of host publicationNeuromuscular Disorders of Infancy, Childhood, and Adolescence: A Clinician's Approach
PublisherElsevier Inc.
Number of pages26
ISBN (Print)9780124171275, 9780124170445
StatePublished - Dec 3 2014


  • Amino acids
  • Fatty acids
  • Glycogen storage diseases
  • Glycoproteinoses
  • Inherited metabolic diseases
  • Leigh disease
  • Lipids
  • Mitochondrial diseases
  • Peroxisomal diseases
  • Sphingolipidoses

ASJC Scopus subject areas

  • Medicine(all)
  • Neuroscience(all)


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