Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2000 May;29(5):289-92.
doi: 10.1007/s002560050611.

D-2-hydroxyglutaric aciduria in association with spondyloenchondromatosis

I S Talkhani  1 , J Saklatvala, J Dwyer
Affiliations
Case Reports

D-2-hydroxyglutaric aciduria in association with spondyloenchondromatosis

I S Talkhani et al. Skeletal Radiol. 2000 May.

Abstract

D-2-hydroxyglutaric aciduria is a rare metabolic disorder, first reported in 1980, and does not yet have a clinically specific presentation pattern nor any specific treatment regime. We report a girl born with this uncommon metabolic disorder, who, at the age of 12 months, was also found to have a severe crippling form of skeletal dysplasia, spondyloenchondromatosis.

PubMed Disclaimer

Publication types