DOOR syndrome: deficiency of E1 component of the 2-oxoglutarate dehydrogenase complex.
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.
Surendran
Sankar
S
Department of Pediatrics, University of Texas Medical Branch, Galveston, Texas 77555, USA.
Michals-Matalon
Kimberlee
K
Krywawych
Stephan
S
Qazi
Qutub H
QH
Tuchman
Roberto
R
Rady
Peter L
PL
Tyring
Stephan K
SK
Matalon
Reuben
R
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
D002250:Carbon Radioisotopes; D007655:Ketoglutarate Dehydrogenase Complex