Ketolytic Disorders

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We had a recent discussion in our clinical case conference today about an adolescent with recurrent hyperketotic and occasionally hypoglycemic episodes. It was a reminder that there can be difficulty in making a biochemical diagnosis in disorders of ketolysis, due to the lack of  or intermittent nature of pathogonomic organic acid and acylcarnitine profiles. A thorough review of these disorders was published in Journal of Inherited Metabolic Diseases, April 2011 by JO Sass. In SCOT deficiency urine organic acids will only show ketonuria and acylcarnitine profile will be non diagnostic, and in beta-ketothiolase deficiency organic acids can (but not always will) show isoleucine metabolties and ketones, and the acylcarnitine profile can show elevated C5OH and C5:1 species. (Sass, 2011, J Inherited Metab Dis, April 09; epub)

Hilary Vernon, MD PhD

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