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Reduced branched-chain alpha-keto acid dehydrogenase activity in cultured fibroblasts

MedGen UID:
1050365
•Concept ID:
CN375678
•
Finding
HPO: HP:4000207

Definition

Acitivity of branched-chain alpha-keto acid dehydrogenase complex (EC 1.2.4.4) below the lower limit of normal in cultured fibroblasts. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVReduced branched-chain alpha-keto acid dehydrogenase activity in cultured fibroblasts

Conditions with this feature

Maple syrup urine disease type 1A
MedGen UID:
443950
•Concept ID:
C2930989
•
Disease or Syndrome
A maple syrup urine disease caused by mutations in BCKDHA.
See: Condition Record
Maple syrup urine disease type 1A

Recent clinical studies

Etiology

Absence of branched chain acyl-transferase as a cause of maple syrup urine disease.
Danner DJ, Armstrong N, Heffelfinger SC, Sewell ET, Priest JH, Elsas LJ
J Clin Invest 1985 Mar;75(3):858-60. doi: 10.1172/JCI111783. PMID: 3980729Free PMC Article

Therapy

Phenylbutyrate therapy for maple syrup urine disease.
Brunetti-Pierri N, Lanpher B, Erez A, Ananieva EA, Islam M, Marini JC, Sun Q, Yu C, Hegde M, Li J, Wynn RM, Chuang DT, Hutson S, Lee B
Hum Mol Genet 2011 Feb 15;20(4):631-40. Epub 2010 Nov 23 doi: 10.1093/hmg/ddq507. PMID: 21098507Free PMC Article
Biochemical basis of thiamin-responsive maple syrup urine disease.
Chuang DT, Ku LS, Cox RP
Trans Assoc Am Physicians 1982;95:196-204. PMID: 7182976
Thiamin-responsive maple-syrup-urine disease: decreased affinity of the mutant branched-chain alpha-keto acid dehydrogenase for alpha-ketoisovalerate and thiamin pyrophosphate.
Chuang DT, Ku LS, Cox RP
Proc Natl Acad Sci U S A 1982 May;79(10):3300-4. doi: 10.1073/pnas.79.10.3300. PMID: 6954481Free PMC Article

Prognosis

Phenylbutyrate therapy for maple syrup urine disease.
Brunetti-Pierri N, Lanpher B, Erez A, Ananieva EA, Islam M, Marini JC, Sun Q, Yu C, Hegde M, Li J, Wynn RM, Chuang DT, Hutson S, Lee B
Hum Mol Genet 2011 Feb 15;20(4):631-40. Epub 2010 Nov 23 doi: 10.1093/hmg/ddq507. PMID: 21098507Free PMC Article

Clinical prediction guides

Phenylbutyrate therapy for maple syrup urine disease.
Brunetti-Pierri N, Lanpher B, Erez A, Ananieva EA, Islam M, Marini JC, Sun Q, Yu C, Hegde M, Li J, Wynn RM, Chuang DT, Hutson S, Lee B
Hum Mol Genet 2011 Feb 15;20(4):631-40. Epub 2010 Nov 23 doi: 10.1093/hmg/ddq507. PMID: 21098507Free PMC Article
Biochemical basis of thiamin-responsive maple syrup urine disease.
Chuang DT, Ku LS, Cox RP
Trans Assoc Am Physicians 1982;95:196-204. PMID: 7182976
Thiamin-responsive maple-syrup-urine disease: decreased affinity of the mutant branched-chain alpha-keto acid dehydrogenase for alpha-ketoisovalerate and thiamin pyrophosphate.
Chuang DT, Ku LS, Cox RP
Proc Natl Acad Sci U S A 1982 May;79(10):3300-4. doi: 10.1073/pnas.79.10.3300. PMID: 6954481Free PMC Article

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