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

American Journal of Medical Genetics

Volumn 113, Issue 4, 2002, Pages 371-374

  Surendran, Sankar ^a   Michals Matalon, Kimberlee ^b   Krywawych, Stephan ^c   Qazi, Qutub H ^d   Tuchman, Roberto ^e   Rady, Peter L ^a   Tyring, Stephan K ^a   Matalon, Reuben ^a  

^a University of Texas Medical Branch School of Medicine   (United States)

^b UNIVERSITY OF HOUSTON   (United States)

^c GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^d SUNY DOWNSTATE MEDICAL CENTER   (United States)

^e MIAMI CHILDREN'S HOSPITAL   (United States)

Author keywords

Deafness; DOOR syndrome; E10 deficiency; Mental retardation; OGDH; Onycho osteodystrophy

Indexed keywords

OXOGLUTARATE DEHYDROGENASE; CARBON; DIAGNOSTIC AGENT;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; ENZYME ACTIVITY; ENZYME DEFICIENCY; FEMALE; FIBROBLAST; HUMAN; LEUKOCYTE; MALE; MENTAL DEFICIENCY; NAIL DYSTROPHY; OSTEODYSTROPHY; PERCEPTION DEAFNESS; PRIORITY JOURNAL; SYNDROME; SYNDROME DOOR; THUMB MALFORMATION; BONE DYSPLASIA; CASE CONTROL STUDY; CRANIOFACIAL MALFORMATION; ENZYME ASSAY; ENZYMOLOGY; FAMILY HEALTH; HAND MALFORMATION; METABOLISM; METHODOLOGY; MULTIPLE MALFORMATION SYNDROME; NAIL DISEASE; PATHOLOGY; PRESCHOOL CHILD;

ABNORMALITIES, MULTIPLE; BONE DISEASES, DEVELOPMENTAL; CARBON RADIOISOTOPES; CASE-CONTROL STUDIES; CHILD; CHILD, PRESCHOOL; CRANIOFACIAL ABNORMALITIES; ENZYME TESTS; FAMILY HEALTH; FEMALE; FIBROBLASTS; HAND DEFORMITIES, CONGENITAL; HUMANS; KETOGLUTARATE DEHYDROGENASE COMPLEX; LEUKOCYTES; MALE; NAILS, MALFORMED;

EID: 1842843385     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.b.10804     Document Type: Article

References (27)

1. Abboud MR, Alexander D, Najjar SS. 1985. Diabetes mellitus, thiamine-dependent megaloblastic anemia, and sensorineural deafness associated with deficient alpha-ketoglutarate dehydrogenase activity. J Pediatr 107:537-541.
2. Bonnefont JP, Chretien D, Rustin P, Robinson B, Vassault A, Aupetit J, Charpentier C, Rabier D, Saudubray JM, Munnich A. 1992. α-ketoglutarate dehydrogenase deficiency presenting as congenital lactic acidosis. J Pediatr 121:255-258.
3. Butterworth RF, Kril JJ, Harper CG. 1993. Thiamine-dependent enzyme changes in the brains of alcoholics: Relationship to the Wernicke-Korsakoff syndrome. Alcohol Clin Exp Res 17:1084-1088.
4. Calingasan NY, Baker H, Sheu KF, Gibson GE. 1994. Distribution of the α-ketoglutarate dehydrogenase complex in rat brain. J Comp Neurol 346:461-479.
5. Cantwell RJ. 1975. Congenital sensorineural deafness associated with onycho-osteodystrophy and mental retardation (DOOR syndrome). Humangenetik 26:261-265.
6. Duran M, Wadman SK. 1985. Thiamine-responsive inborn errors of metabolism. J Inherit Metab Dis 8(Suppl 1):70-75.
7. Feinmesser M, Zelig S. 1961. Congenital deafness associated with onychodystrophy. Arch Otolaryngol 74:507-508.
8. Gibson GE, Sheu KFR, Blass JP. 1998. Abnormalities of mitochondrial enzymes in Alzheimer disease. J Neural Transm 105:855-870.
9. Gibson GE, Park LCH, Sheu KR, Blass JP, Calingasan NY. 2000. The α-ketoglutarate dehydrogenase complex in neurodegeneration. Neurochem Int 36:97-112.
10. Goodman RM, Lockareff S, Gwinup G. 1969. Hereditary congenital deafness with onychodystrophy. Arch Otolaryngol 90:474-477.
11. Guffon N, Lopez-Mediavilla C, Dumoulin R, Mousson B, Godinot C, Carrier H, Collombet JM, Divry P, Mathieu M, Guibaud P. 1993. 2-Oxoglutarate dehydrogenase deficiency, a rare cause of primary hyperlactataemia: Report of a new case. J Inherit Metab Dis 16:821-830.
12. Koike K. 1995. The gane encoding human 2-oxoglutarate dehydrogenase: structural organization and mapping to chromosome 7p13.p14. Gene 159:261-266.
13. Koike M, Koike K. 1976. Structure, assembly and function of mammalian alpha-keto acid dehydrogenase complexes. Adv Biophys 9:187-227.
14. Koike K, Tanaka N, Hamada M, Otsuka KI, Suematsu T, Koike M. 1971. Resolution and reconstitution of pig heart 2-oxoglutarate dehydrogenase complex. J Biochem 69:1143-1147.
15. Koike K, Hamada M, Tanaka N, Otsuka KI, Ogasahara K, Koike M. 1974. Properties and subunit composition of the pig heart 2-oxoglutarate dehydrogenase. J Biol Chem 249:3836-3842.
16. Lin HJ, Kakkis ED, Eteson DJ, Lachman RS. 1993. DOOR syndrome (deafness, onycho-osteodystrophy, and mental retardation): A new patient and delineation of neurologic variability among recessive cases. Am J Med Genet 47:534-539.
17. McKusick VA. 1998. Mendelian inheritance in man. Baltimore: The John Hopkins University Press.
18. Mande SS, Sarfaty S, Allen MD, Perham RN, Hol WGJ. 1996. Protein-protein interactions in the pyruvate dehydrogenase multienzyme complex: Dihydrolipoamide dehydrogenase complexed with the binding domain of dihydrolipoamide acetyltransferase. Structure 4:277- 286.
19. Nevin NC, Thomas PS, Calvert J, Reid MM. 1982. Deafness, onycho-osteodystrophy, mental retardation (DOOR) syndrome. Am J Med Genet 13:325-332.
20. Patton MA, Krywawych S, Winter RM, Brenton DP, Baraitser M. 1987. DOOR syndrome (deafness, onycho-osteodystrophy, and mental retardation): Elevated plasma and urinary 2-oxoglutarate in three unrelated patients. Am J Med Genet 26:207-215.
21. Qazi QH, Nangia BS. 1984. Abnormal distal phalanges and nails, deafness, mental retardation, and seizure disorder: A new familial syndrome. J Pediatr 104:391-394.
22. Rajab A, Riaz A, Paul G, Al-khusaibi S, Chalmers R, Patton MA. 2000. Further delineation of the DOOR syndrome. Clin Dysmorphol 9:247-251.
23. Sanchez O, Mazas JJ, Ortiz I, de DeMatos F. 1981. The deafness, onycho-osteo-dystrophy, mental retardation syndrome. Two new cases. Hum Genet 58:228-230.
24. Sheu KF, Calingasan NY, Lindsay JG, Gibson GE. 1998. Immunocytochemical characterization of the deficiency of α-keto glutarate dehydrogenase complex in thiamine-deficient rat brain. J Neurochem 70:1143-1150.
25. Tanaka N, Koike K, Hamada M, Otsuka KI, Suematsu T, Koike M. 1972. Mammalian keto acid dehydrogenase complexes. VII. Resolution and reconstitution of the pig heart 2-oxoglutarate dehydrogenase complex. J Biol Chem 247:4043-4049.
26. Vassault A, Bonnefont JP, Specola N, Saudubray JM. 1991. Techniques in Diagnostic Human Biochemical Genetics: A Laboratory Manual. New York: Wiley-Liss. p 285-308.
27. Yeaman SJ. 1989. The 2-oxo acid dehydrogenase complexes: Recent advances. Biochem J 257:625-632.