Research Article| Volume 14, ISSUE 6, P359-368, December 1999

Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: A case example in developmental disabilities

  • Melissa Spezia Faulkner
    Address reprint requests to Melissa Spezia Faulkner, DSN, RNC, Boling Center for Developmental Disabilities, College of Nursing, The University of Tennessee, Memphis, 877 Madison Ave, Memphis, TN 38163.
    Boling Center for Developmental Disabilities College of Nursing, The University of Tennessee, Memphis, USA
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      Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency is a rare autosomal recessive disorder with varied expression, from severe hypoglycemia and possible sudden infant death to neurosensory deficits secondary to the acute onset. The neurosensory deficits can include clinical features such as seizure disorders, mental retardation, neuropathy, and retinopathy. The basic defect is the lack of the LCHAD enzyme in the liver, which is necessary for fatty acid metabolism. The condition is usually precipitated by infection and dehydration. A case example of a preschooler with LCHAD deficiency is presented to show the complexity of this disorder and resultant developmental disabilities. Implications for nursing practice, education, and research are discussed in relation to the needs of families with complex, developmental disabilities.
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