Gene: [19q132/BCKDE1A] 2-oxoisovalerate dehydrogenase (lipoamide), alpha polypeptide; branched chain keto acid dehydrogenase E1, alpha polypeptide; maple syrup urine disease (due to BCK-E1-alpha deficiency);


The holoenzyme functions as a component of multienzyme complex BCKD, which decarboxylates branched chain keto acids, adds them to coenzyme A, and synthesizes NADH."


[1] Gene for the beta subunit of 2-oxoisovalerate dehydrogenase is mapped to the short arm of chr 6 (GEM:06p2/BCKDE1B). Gene for dihydrolipoamide transacylase, which represents E2 component of BCKD, is mapped to Chr 1 (GEM:01p31/BCKDE2). Gene for one more BCKD subunit, lipoamide dehydrogenase, is mapped (GEM:07q3/DLD).
[2] It is assumed that a gene that regulates the transport of leucine and other branched chain amino acids is located in Chr 20; see GEM:20^/HTL."


The specific odor of the patients' urine, which reminds that of maple syrup, or vegetable-water, is usually accounted for by accumulation of branched chain amino acids resulted from the defect in the mitochondrial multienzymatic complex BCKD, which decarboxylates them. Several clinical genetic types of maple syrup urine disease due to BCKD deficiency are known (see GEM:01p31/BCKDE2; GEM:06p2/BCKDE1B; GEM:07q3/DLD). It is not clear yet which of them is determined by the defect of 2-oxoisovalerate dehydrogenase alpha peptide."


MUT "Chuang JL &: J Clin Invest, 95, 954-963, 1995
MUT "Chuang JL &: AJHG, 55, 297-304, 1994
LOC,MOL "Crabb DW &: CCG, 50, 40-41, 1989
REV,PAT,MEB,PHE,POP,FOG,TER "Dancis, Levitz: (in) MBID, 4th ed, pp.397-410, 1978
COD,SEQ,TRC,TRL "Danner DJ &: JBC, 264, 7742-7746, 1989
CLO,SEQ,GEN "Dariush N &: FEBS Lett, 284, 34-38, 1991
LOC,MOL "Fekete G &: CCG, 50, 236-237, 1989
MUT "Fisher CR &: AJHG, 49, 429-434, 1991a
MUT "Fisher CR &: J Clin Invest, 88, 1034-1037, 1991b
CLO,SEQ,GEN "Fisher CW &: JBC, 264, 3448-3453, 1989
HIS,PAT,PHE "Menkes &: Pediatrics, 14, 462-467?, 1954
MUT "Patel MS, Harris RA: FASEB J, 9, 1164-1172, 1995
COD,SEQ,EVO,HUM,RAT,LOC,EAG "Tiu &: AJHG, 43, A17, 1988


neu, mtbd, aac, lip, mito


coding, basic


19 q13.2


MIM: 248600



Смотрите также:

  • MSUD.Строение гена E1 альфа BCKDH комплекса
  • MSUD.Строение гена E1 бета BCKDH комплекса
  • MSUD.Локализация генов