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);
|
FUN |
The holoenzyme functions as a component of multienzyme complex BCKD, which decarboxylates branched chain keto acids, adds them to coenzyme A, and synthesizes NADH." |
|
FAG |
[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." |
|
PAT |
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." |
|
REF |
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 |
|
KEY |
neu, mtbd, aac, lip, mito |
|
CLA |
coding, basic |
|
LOC |
19 q13.2 |
|
MIM |
MIM: 248600 |
|
EZN |
ENZYME: 1.2.4.4 |
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