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 (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.