Disorders of Lipid Metabolism

Stefano Di Donato, Franco Taroni

Research output: Chapter in Book/Report/Conference proceedingChapter


Inherited defects in mitochondrial fatty-acid β-oxidation comprise a group of at least 18 autosomal recessive disorders characterized by distinct enzyme or transporter deficiencies that represent most of the biochemical steps in the pathway. They manifest with a spectrum of clinical phenotypes, including progressive lipid storage myopathy, rhabdomyolysis with paroxysmal myoglobinuria, peripheral neuropathy, progressive cardiomyopathy, hypoglycemic hypoketotic encephalopathy, seizures, and mental retardation. They are potentially rapidly fatal and a source of major morbidity. Early recognition and prompt institution of therapy and appropriate preventive measures may be life-saving and may significantly decrease long-term morbidity, including CNS sequelae. The diagnosis is based on finding accumulation of specific biochemical markers such as acylcarnitines in blood and urinary dicarboxylic acids and acylglycines. Confirmatory testing requires enzymatic studies and DNA analysis. Newborn screening by mass spectrometry analysis has significantly enhanced the early recognition of these disorders, allowing identification of many affected patients before the onset of symptoms.

Original languageEnglish
Title of host publicationRosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease: Fifth Edition
PublisherElsevier Inc.
Number of pages18
ISBN (Print)9780124105294, 9780124105492
Publication statusPublished - Nov 13 2014


  • Cardiomyopathy
  • Fatty-acid oxidation
  • Metabolic disease
  • Mitochondria
  • Myopathy

ASJC Scopus subject areas

  • Medicine(all)


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