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GM01654 Fibroblast

Description:

MAPLE SYRUP URINE DISEASE (MSUD), TYPE IA

Affected:

Yes

Sex:

Female

Age:

5 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • Publications
  • External Links
  • Culture Protocols

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Class Disorders of Amino Acid Metabolism
Cell Type Fibroblast
Transformant Untransformed
Race White
Ethnicity MENNONITE
Family Member 1
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks See GM01655 Lymphoid; 2 sisters died of MSUD; Mennonite kindred; def branchedchain keto-acid decarboxylase act in fibro and lympho: expired at age 5; def of BCKDH complex subunit E1B (branchedchain alpha-keto acid decarboxylase)

Characterizations

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Passage Frozen 2
 
3-methyl-2-oxobutanoate dehydrogenase Indo et al (J Clin Invest 80:63-70 1987) reported that lymphoblasts from this patient had BCKDH enzyme activity which showed sigmoidal or near sigmoidal kinetics for overall activity which was reduced from normal activity. Both fibroblasts and lymphoblasts showed a markedly decreased amount of the E1B (branched-chain alpha-keto acid decarboxylase) protein component of the BCKDH complex using an immunoblot analysis. The E1A subunit gave a weakly positive reaction and the E2 (dihydrolipoyl transacylase) and E3 (dihydrolipoyl dehydrogenase) proteins exhibited cross-reactive peptide. EC Number: 1.2.4.4
 

Phenotypic Data

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Remarks See GM01655 Lymphoid; 2 sisters died of MSUD; Mennonite kindred; def branchedchain keto-acid decarboxylase act in fibro and lympho: expired at age 5; def of BCKDH complex subunit E1B (branchedchain alpha-keto acid decarboxylase)

Publications

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Huh TL, Casazza JP, Huh JW, Chi YT, Song BJ, Characterization of two cDNA clones for pyruvate dehydrogenase E1 beta subunit and its regulation in tricarboxylic acid cycle-deficient fibroblast. J Biol Chem265:13320-6 1990
PubMed ID: 2376596
 
Indo Y, Kitano A, Endo F, Akaboshi I, Matsuda I, Altered kinetic properties of the branched-chain alpha-keto acid dehydrogenase complex due to mutation of the beta-subunit of the branched-chain alpha-keto acid decarboxylase (E1) component in lymphoblastoid cells derived from patients with maple syrup urine disease. J Clin Invest80:63-70 1987
PubMed ID: 3597778

External Links

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dbSNP dbSNP ID: 15539
NCBI GTR 248600 MAPLE SYRUP URINE DISEASE; MSUD
OMIM 248600 MAPLE SYRUP URINE DISEASE; MSUD
Omim Description BCKD DEFICIENCY
  BCKD, E1-ALPHA SUBUNIT, INCLUDED; BCKDE1A, INCLUDED
  BRANCHED-CHAIN ALPHA-KETO ACID DEHYDROGENASE DEFICIENCY
  BRANCHED-CHAIN KETO ACID DEHYDROGENASE E1, ALPHA POLYPEPTIDE, INCLUDED;BCKDHA, INCLUDED; BCKDH, INCLUDED
  BRANCHED-CHAIN KETOACIDURIA
  KETO ACID DECARBOXYLASE DEFICIENCYTHIAMINE-RESPONSIVE MSUD, INCLUDED
  MAPLE SYRUP URINE DISEASE, TYPE IA
  MSUD
  MSUD, TYPE IA

Culture Protocols

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Passage Frozen 2
Split Ratio 1:3
Temperature 37 C
Percent CO2 5%
Medium Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent
Serum 15% fetal bovine serum Not inactivated
Substrate None specified
Subcultivation Method trypsin-EDTA
Supplement -
Pricing
International/Commercial/For-profit:
$373.00USD
U.S. Academic/Non-profit/Government:
$216.00USD
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