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 (E1₀) in fibroblasts and white blood cells of the patients is decreased. The activity of E1₀ in all patients' fibroblasts and white blood cells was significantly lower compared to the controls. This study demonstrates for the first time that E1₀ deficiency is an important biochemical marker for the autosomal recessive form of DOOR syndrome.