Skeletal Radiology

, Volume 29, Issue 5, pp 289–292

D-2-hydroxyglutaric aciduria in association with spondyloenchondromatosis

  • I. S. Talkhani
  • J. Saklatvala
  • J. Dwyer
Case Report

DOI: 10.1007/s002560050611

Cite this article as:
Talkhani, I., Saklatvala, J. & Dwyer, J. Skeletal Radiol (2000) 29: 289. doi:10.1007/s002560050611

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.

Key words D-2-hydroxyglutaricaciduriaSpondyloenchondromatosisSkeletal dysplasiaHydroxyglutaric aciduriaOllier’s disease

Copyright information

© International Skeletal Society 2000

Authors and Affiliations

  • I. S. Talkhani
    • 1
  • J. Saklatvala
    • 1
  • J. Dwyer
    • 1
  1. 1.Hartshill Orthopaedic Centre, Stoke-on-Trent, UKGB
  2. 2.Flat 12, Whinpark, Whinpark Avenue, Blackpool, FY3 8NZ, UKGB