title: DOOR syndrome: deficiency of E1 component of the 2-oxoglutarate dehydrogenase complex.
abstract: Four patients from three families with the clinical features of DOOR syndrome (onycho-osteodystrophy, dystrophic thumbs, sensorineural deafness, and increased urinary levels of 2-oxoglutarate) are the subjects of this report. Our report deals with the autosomal recessive form of the disease, wherein the activity of 2-oxoglutarate decarboxylase (E1(0)) in fibroblasts and white blood cells of the patients is decreased. The activity of E1(0) in all patients' fibroblasts and white blood cells was significantly lower compared to the controls. This study demonstrates for the first time that E1(0) deficiency is an important biochemical marker for the autosomal recessive form of DOOR syndrome.
authors.affiliation: Department of Pediatrics, University of Texas Medical Branch, Galveston, Texas 77555, USA.
authors.forename: Sankar
authors.initials: S
authors.lastname: Surendran
authors.forename: Kimberlee
authors.initials: K
authors.lastname: Michals-Matalon
authors.forename: Stephan
authors.initials: S
authors.lastname: Krywawych
authors.forename: Qutub H
authors.initials: QH
authors.lastname: Qazi
authors.forename: Roberto
authors.initials: R
authors.lastname: Tuchman
authors.forename: Peter L
authors.initials: PL
authors.lastname: Rady
authors.forename: Stephan K
authors.initials: SK
authors.lastname: Tyring
authors.forename: Reuben
authors.initials: R
authors.lastname: Matalon
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000473:pathology; D001848:Bone Diseases, Developmental / Q000175:diagnosis* / Q000473:pathology; D002250:Carbon Radioisotopes; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D004796:Clinical Enzyme Tests / Q000379:methods*; D019465:Craniofacial Abnormalities; D005192:Family Health; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D006228:Hand Deformities, Congenital; D006801:Humans; D007655:Ketoglutarate Dehydrogenase Complex / Q000172:deficiency* / Q000378:metabolism; D007962:Leukocytes / Q000201:enzymology; D008297:Male; D009264:Nails, Malformed
chemical_list: D002250:Carbon Radioisotopes; D007655:Ketoglutarate Dehydrogenase Complex