DOOR syndrome: Deficiency of E1 component of the 2-oxoglutarate dehydrogenase complex

Sankar Surendran, Kimberlee Michals-Matalon, Stephan Krywawych, Qutub H. Qazi, Roberto Tuchman, Peter L. Rady, Stephan K. Tyring, Reuben Matalon

Research output: Contribution to journalArticle

15 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)371-374
Number of pages4
JournalAmerican journal of medical genetics
Volume113
Issue number4
DOIs
StatePublished - Dec 15 2002

Keywords

  • Deafness
  • DOOR syndrome
  • E1 deficiency
  • Mental retardation
  • OGDH
  • Onycho-osteodystrophy

ASJC Scopus subject areas

  • Genetics(clinical)

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    Surendran, S., Michals-Matalon, K., Krywawych, S., Qazi, Q. H., Tuchman, R., Rady, P. L., Tyring, S. K., & Matalon, R. (2002). DOOR syndrome: Deficiency of E1 component of the 2-oxoglutarate dehydrogenase complex. American journal of medical genetics, 113(4), 371-374. https://doi.org/10.1002/ajmg.b.10804