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J Inherit Metab Dis. 2009 Dec;32 Suppl 1:S49-52. doi: 10.1007/s10545-009-1048-5. Epub 2009 Feb 24.

3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: initial presentation in a young adult.

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  • 1Department of Neurological Imaging, Sta. Maria Hospital, University of Lisbon, Lisbon, Portugal.


3-Hydroxy-3-methylglutaryl-coenzyme A (HMG-CoA) lyase deficiency is a rare inborn error affecting leucine catabolism and ketogenesis, usually presenting in the neonatal period. Late forms of the disease have been detected in infancy and childhood, but not in adults. We report a case of HMG-CoA lyase deficiency with initial presentation in a 29-year-old adult with no prior history of the disease, which to our knowledge is the first case described with presentation at this age.

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