Title:Very long chain acyl-coenzyme A dehydrogenase deciciency. A case study

Author:Kayleigh EA Hancock and Karen E McKinley

Abstract:Very long-chain acyl-coenzyme A dehydrogenase deficiency (VLCADD) is a genetic disorder of fatty acid metabolism, with an autosomal recessive inheritance pattern and an incidence of 1:40,000 - 1:120,000. Deficiency of the enzyme can result in insufficient adenosine triphosphate (ATP) production. This can become life threatening particularly during times of fasting or increased exercise. This case study presents siblings patient A and patient B, who have been diagnosed with severe VLCADD. Patient B, the primary focus of this case study, repeatedly presents to the children's ward with extremely elevated creatine kinase (CK) levels. Treatment of this disorder can be complicated, particularly in infants and young children, as it involves avoidance of prolonged fasting and a very carefully monitored diet. Monitoring of the condition is made more difficult as there is currently no suitable point of care (POC) test available for CK.
Keywords: very long chain acyl-coenzyme A dehydrogenase deficiency, inborn error of metabolism.
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