Mitochondrial Fatty-Acid Oxidation Disorders

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 il...

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Bibliographic Details
Published in:Seminars in pediatric neurology 2008-09, Vol.15 (3), p.140-149
Main Authors: Kompare, Michelle, MD, Rizzo, William B., MD
Format: Article
Language:English
Subjects:
Diagnosis, Differential
Fatty Acids - metabolism
Humans
Infant, Newborn
Lipid Metabolism, Inborn Errors - classification
Lipid Metabolism, Inborn Errors - diagnosis
Lipid Metabolism, Inborn Errors - metabolism
Mitochondria - metabolism
Mitochondrial Diseases - classification
Mitochondrial Diseases - diagnosis
Mitochondrial Diseases - metabolism
Neonatal Screening - methods
Neurology
Oxidation-Reduction
Pediatrics
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Summary: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.
ISSN:1071-9091
1558-0776
DOI:10.1016/j.spen.2008.05.008