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NA00649 DNA from Fibroblast

Description:

MAPLE SYRUP URINE DISEASE (MSUD), TYPE IA
BRANCHED-CHAIN KETO ACID DEHYDROGENASE E1, ALPHA POLYPEPTIDE; BCKDHA

Affected:

Yes

Sex:

Male

Age:

9 MO (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • Publications
  • External Links
  • Images

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Class Disorders of Amino Acid Metabolism
Quantity 10 µg
Quantitation Method Please see our FAQ
Cell Type Fibroblast
Transformant Untransformed
Sample Source DNA from Fibroblast
Race White
Family Member 1
Relation to Proband proband
Confirmation Molecular characterization after cell line submission to CCR
Species Homo sapiens
Common Name Human
Remarks Elevated urine leu, ileu, and val; delayed psychomotor develop; abnormal EEG; deficient BCKD (BCKAD) complex activity; posititve for cross-reactive material for BCKD (BCKAD) complex subunits E1A, E2, and E3; E1A (BCKDE1A or BCKDHA) gene shows 8-bp deletion in exon 7/Y438N (formerly designated Y393N) mutations

Characterizations

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Passage Frozen 6
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis
 
MITOCHONDRIAL DNA ANALYSIS Eisenstein et al (Am J Hum Genet 37:A8 1985) employed a rabbit anti-bovine kidney BCKDH antibody to show that mitochondrial extracts from this culture in a western blot analysis were positive for crossreactive material for BCKDH subunits E1A (branched-chain alpha-keto acid decarboxylase) E2 (dihydrolipoyl transacylase) and E3 (dihydrolipoyl dehydrogenase).
 
3-methyl-2-oxobutanoate dehydrogenase According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 1.2.4.4
 
Gene BCKDHA
Chromosomal Location 19q13.1-q13.2
Allelic Variant 1 608348.0002; MAPLE SYRUP URINE DISEASE, CLASSIC TYPE IA, DUE TO DEFICIENCY OF E1A
Identified Mutation 8-BP DEL, NT887-894, FS255TER; In the compound heterozygote with the tyr393-to-asn mutation (248600.0001) reported by Zhang et al. [J Clin Invest 83: 1425 (1989)], Chuang et al. [Am. J. Hum. Genet. 55: 297 (1994)] demonstrated that the other allele carried an 8-bp deletion involving bases 887 through 894. The deletion resulted in a nonsense codon 255 of the mature E1-alpha subunit. The deletion abolished an SmaI restriction site in exon 7. This alteration in restriction was used to study segregation of the deletion in the family. The mother was found to be heterozygous. (When the tyr393-to-asn mutation was reported in 1989, the second allele was postulated to be a regulatory mutation, on the basis of a reduced mRNA level for this allele. Studies of the promoter regulatory region of the gene from this patient (GM00649) revealed that the patient and the mother were heterozygous for an A-to-T transversion at base -284. Using the luciferase reporter assay, however, Chuang et al. [Am. J. Hum. Genet. 55: 297 (1994)] found that the A-to-T transversion was associated with normal activity, indicating that it represents a normal polymorphism.)
 
Gene BCKDHA
Chromosomal Location 19q13.1-q13.2
Allelic Variant 2 Y438N; MAPLE SYRUP URINE DISEASE, CLASSIC TYPE IA, DUE TO DEFICIENCY OF E1A
Identified Mutation TYR438ASN (FORMERLY TYR393ASN)

Phenotypic Data

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Remarks Elevated urine leu, ileu, and val; delayed psychomotor develop; abnormal EEG; deficient BCKD (BCKAD) complex activity; posititve for cross-reactive material for BCKD (BCKAD) complex subunits E1A, E2, and E3; E1A (BCKDE1A or BCKDHA) gene shows 8-bp deletion in exon 7/Y438N (formerly designated Y393N) mutations

Publications

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Chuang JL, Davie JR, Chinsky JM, Wynn RM, Cox RP, Chuang DT, Molecular and biochemical basis of intermediate maple syrup urine disease. Occurrence of homozygous G245R and F364C mutations at the E1 alpha locus of Hispanic-Mexican patients. J Clin Invest95:954-63 1995
PubMed ID: 7883996
 
Chuang JL, Fisher CR, Cox RP, Chuang DT, Molecular basis of maple syrup urine disease: novel mutations at the E1 alpha locus that impair E1(alpha 2 beta 2) assembly or decrease steady- state E1 alpha mRNA levels of branched-chain alpha-keto acid dehydrogenase complex. Am J Hum Genet55:297-304 1994
PubMed ID: 8037208
 
Eisenstein, Characterization of branch chain keto acid dehydrogenase (BCKAD) deficiency in maple syrup urine disease (MSUD). Am J Hum Genet37:A8 (1985):297-304 1985
PubMed ID: 8037208
 
Chuang DT, Ku LS, Kerr DS, Cox RP, Detection of heterozygotes in maple-syrup-urine disease: measurements of branched-chain alpha-ketoacid dehydrogenase and its components in cell cultures. Am J Hum Genet34:416-24 1982
PubMed ID: 7081220
 
Fensom AH, Benson PF, Baker JE, A rapid method for assay of branched-chain keto acid decarboxylation in cultured cells and its application to prenatal diagnosis of maple syrup urine disease. Clin Chim Acta87:169-74 1978
PubMed ID: 668138

External Links

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dbSNP dbSNP ID: 10359
Gene Cards BCKDHA
Gene Ontology GO:0003826 alpha-ketoacid dehydrogenase activity
GO:0003863 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity
GO:0005739 mitochondrion
GO:0005947 alpha-ketoglutarate dehydrogenase complex (sensu Eukarya)
GO:0008152 metabolism
NCBI Gene Gene ID:593
NCBI GTR 248600 MAPLE SYRUP URINE DISEASE; MSUD
608348 BRANCHED-CHAIN KETO ACID DEHYDROGENASE E1, ALPHA POLYPEPTIDE; BCKDHA
OMIM 248600 MAPLE SYRUP URINE DISEASE; MSUD
608348 BRANCHED-CHAIN KETO ACID DEHYDROGENASE E1, ALPHA POLYPEPTIDE; BCKDHA
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

Images

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International/Commercial/For-profit:
$281.00USD
U.S. Academic/Non-profit/Government:
$139.00USD
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