Format

Send to

Choose Destination
See comment in PubMed Commons below
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.

Author information

  • 1Department of Neurological Imaging, Sta. Maria Hospital, University of Lisbon, Lisbon, Portugal. sofiapcr@gmail.com

Abstract

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.

[PubMed - indexed for MEDLINE]
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Springer
    Loading ...
    Write to the Help Desk