title: D-2-hydroxyglutaric aciduria in association with spondyloenchondromatosis.
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.
authors.affiliation: Hartshill Orthopaedic Centre, Stoke-on-Trent, UK.
authors.forename: I S
authors.initials: IS
authors.lastname: Talkhani
authors.forename: J
authors.initials: J
authors.lastname: Saklatvala
authors.forename: J
authors.initials: J
authors.lastname: Dwyer
mesh_terms: D001848:Bone Diseases, Developmental / Q000150:complications; D002675:Child, Preschool; D004687:Enchondromatosis / Q000150:complications*; D004839:Epiphyses, Slipped / Q000209:etiology; D005260:Female; D005977:Glutarates / Q000097:blood / Q000652:urine*; D006801:Humans; D007223:Infant; D008661:Metabolism, Inborn Errors / Q000150:complications*; D012600:Scoliosis / Q000209:etiology; D013122:Spinal Diseases / Q000150:complications*
chemical_list: D005977:Glutarates; C019417:alpha-hydroxyglutarate