Genetic disorders of mitochondrial fatty acid oxidation

C. A. Stanley, Daniel Hale

Research output: Contribution to journalReview article

27 Citations (Scopus)

Abstract

Genetic diseases of mitochondrial fatty acid oxidation have recently emerged as important disorders to consider in the differential diagnosis of hypoglycemia, cardiomyopathy, or skeletal muscle weakness in infants and children. A total of 16 different defects have been identified over the past decade that involve almost all of the possible enzyme steps in the pathway. One of these disorders, medium-chain acyl-coenzyme A dehydrogenase deficiency has a frequency as high as 1 in 10,000 births and is the single most common genetic defect of intermediary metabolism. The disorders are frequently mistaken for Reye syndrome or sudden infant death syndrome. Improved methods have simplified the diagnosis of some of the fatty acid oxidation defects. However, recognition of these disorders remains challenging. Rapid advances have continued to be made over the past year in defining clinical phenotypes, diagnostic methods, and therapeutic strategies. Familiarity with this new group of disorders is becoming increasingly important for general pediatricians as well as subspecialists in metabolism, endocrinology, gastroenterology, cardiology, neurology, and genetics.

Original languageEnglish (US)
Pages (from-to)476-481
Number of pages6
JournalCurrent Opinion in Pediatrics
Volume6
Issue number4
DOIs
StatePublished - Jan 1 1994

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Inborn Genetic Diseases
Fatty Acids
Reye Syndrome
Sudden Infant Death
Endocrinology
Muscle Weakness
Gastroenterology
Neurology
Cardiology
Cardiomyopathies
Hypoglycemia
Skeletal Muscle
Differential Diagnosis
Parturition
Phenotype
Enzymes
Recognition (Psychology)
Therapeutics
Pediatricians
Medium chain acyl CoA dehydrogenase deficiency

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health

Cite this

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Genetic disorders of mitochondrial fatty acid oxidation. / Stanley, C. A.; Hale, Daniel.

In: Current Opinion in Pediatrics, Vol. 6, No. 4, 01.01.1994, p. 476-481.

Research output: Contribution to journalReview article

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