Fatty acid β-oxidation defects

Research output: Chapter in Book/Report/Conference proceedingChapter

Abstract

Inherited fatty acid oxidation disorders (FAOD) are among the most common inborn errors of metabolism. The spectrum of clinical phenotypes associated with FAOD is wide, correlates to the severity of the specific enzyme deficiency, and includes cardiomyopathy, fasting or illness-induced hypoketotic hypoglycemia, or recurrent rhabdomyolysis, generally triggered by exercise or febrile illness. Diagnosis is accomplished through specialized biochemical analysis followed by either measurement of specific enzyme activity or more commonly molecular analysis of disease-associated genes. Newborn screening detects the majority of but not all infants with FAOD and frequently allows treatment initiation prior to symptom onset. Avoidance of extreme fasting prevents hypoglycemia and is life saving for at risk infants. Restriction of dietary fat intake and replacement with medium chain triglyceride (MCT) oil to provide a usable energy substrate may also be included in the treatment of individuals with defects in long chain fatty acid oxidation. Long term outcomes for many FAOD are generally satisfactory once a diagnosis has occurred and steps to avoid episodes of metabolic decompensation have been taken. However, chronic complications of peripheral neuropathy or pigmentary retinopathy associated with vision loss may occur in specific disorders of long chain FAOD despite dietary therapy.

Original languageEnglish (US)
Title of host publicationMetabolic Diseases
Subtitle of host publicationFoundations of Clinical Management, Genetics, and Pathology
PublisherIOS Press
Pages155-189
Number of pages35
ISBN (Electronic)9781614997184
ISBN (Print)9781614997177
DOIs
StatePublished - Jan 6 2017

Fingerprint

Fatty Acids
Hypoglycemia
Inborn Errors Metabolism
Rhabdomyolysis
Retinitis Pigmentosa
Dietary Fats
Peripheral Nervous System Diseases
Enzymes
Cardiomyopathies
Fasting
Oils
Triglycerides
Fever
Therapeutics
Newborn Infant
Exercise
Phenotype
Genes

Keywords

  • Cardiomyopathy
  • Congenital hyperinsulinism
  • Fatty acid oxidation
  • Hypoketotic hypoglycemia
  • Peripheral neuropathy
  • Pigmentary retinopathy
  • Rhabdomyolysis

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Harding, C. (2017). Fatty acid β-oxidation defects. In Metabolic Diseases: Foundations of Clinical Management, Genetics, and Pathology (pp. 155-189). IOS Press. https://doi.org/10.3233/978-1-61499-718-4-155

Fatty acid β-oxidation defects. / Harding, Cary.

Metabolic Diseases: Foundations of Clinical Management, Genetics, and Pathology. IOS Press, 2017. p. 155-189.

Research output: Chapter in Book/Report/Conference proceedingChapter

Harding, C 2017, Fatty acid β-oxidation defects. in Metabolic Diseases: Foundations of Clinical Management, Genetics, and Pathology. IOS Press, pp. 155-189. https://doi.org/10.3233/978-1-61499-718-4-155
Harding C. Fatty acid β-oxidation defects. In Metabolic Diseases: Foundations of Clinical Management, Genetics, and Pathology. IOS Press. 2017. p. 155-189 https://doi.org/10.3233/978-1-61499-718-4-155
Harding, Cary. / Fatty acid β-oxidation defects. Metabolic Diseases: Foundations of Clinical Management, Genetics, and Pathology. IOS Press, 2017. pp. 155-189
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