Mitochondrial Fatty-Acid Oxidation Disorders

Michelle Kompare, William B Rizzo

Research output: Contribution to journalReview article

89 Citations (Scopus)

Abstract

Inherited defects in mitochondrial fatty-acid beta-oxidation comprise a group of at least 12 diseases characterized by distinct enzyme or transporter deficiencies. Most of these diseases have a variable age of onset and clinical severity. Symptoms are often episodic and associated with mild viral illness, physiologic stress, or prolonged exercise that overwhelms the ability of mitochondria to oxidize fatty acids. Depending on the specific genetic defect, patients develop fasting hypoketotic hypoglycemia, cardiomyopathy, rhabdomyolysis, liver dysfunction, or sudden death. Neuropathy and pigmentary retinopathy are seen in some of the diseases. The diagnosis is based on finding an accumulation of specific biochemical markers such as acylcarnitine metabolites in blood and urinary dicarboxylic acids and acylglycines. Confirmatory testing requires enzymatic studies and DNA analysis. Therapeutic approaches are generally effective in preventing severe symptomatic episodes, including sudden death. Newborn screening for fatty-acid oxidation disorders promises to identify many affected patients before the onset of symptoms.

Original languageEnglish (US)
Pages (from-to)140-149
Number of pages10
JournalSeminars in Pediatric Neurology
Volume15
Issue number3
DOIs
StatePublished - Sep 1 2008

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Fatty Acids
Sudden Death
Dicarboxylic Acids
Rhabdomyolysis
Retinitis Pigmentosa
Cardiomyopathies
Age of Onset
Hypoglycemia
Liver Diseases
Mitochondria
Biomarkers
Newborn Infant
Exercise
DNA
Enzymes
Therapeutics
acylcarnitine

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Clinical Neurology

Cite this

Mitochondrial Fatty-Acid Oxidation Disorders. / Kompare, Michelle; Rizzo, William B.

In: Seminars in Pediatric Neurology, Vol. 15, No. 3, 01.09.2008, p. 140-149.

Research output: Contribution to journalReview article

Kompare, Michelle ; Rizzo, William B. / Mitochondrial Fatty-Acid Oxidation Disorders. In: Seminars in Pediatric Neurology. 2008 ; Vol. 15, No. 3. pp. 140-149.
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