D-2-hydroxyglutaric aciduria in association with spondyloenchondromatosis.
case_report · Level V
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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.
Medical subject headings
- Enchondromatosis
- Glutarates
- Metabolism, Inborn Errors
- Spinal Diseases