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.
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Received: 19 February 1999 Revision requested: 20 May 1999 Revision received: 7 December 1999 Accepted: 8 December 1999
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Talkhani, I., Saklatvala, J. & Dwyer, J. D-2-hydroxyglutaric aciduria in association with spondyloenchondromatosis. Skeletal Radiol 29, 289–292 (2000). https://doi.org/10.1007/s002560050611
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DOI: https://doi.org/10.1007/s002560050611