Description:
MAPLE SYRUP URINE DISEASE (MSUD), TYPE II
DIHYDROLIPOAMIDE BRANCHED-CHAIN TRANSACYLASE; DBT
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of Amino Acid Metabolism |
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Cell Type
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Fibroblast
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Transformant
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Untransformed
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Race
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Black/African American
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Family Member
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1
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| Passage Frozen |
2 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
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| 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 hyperbolic kinetics for overall activity which was reduced from normal activity. Both fibroblasts and lymphoblasts showed an absence of E2 (dihydrolipoyl transacylase) protein component of the BCKDH complex using an immunoblot analysis. The E1A and E1B (branched-chain alpha-keto acid decarboxylase) and the E3 (dihydrolipoyl dehydrogenase) proteins exhibited cross-reactive peptide. EC Number: 1.2.4.4 |
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| Gene |
DBT |
| Chromosomal Location |
1p31 |
| Allelic Variant 1 |
E163X; MAPLE SYRUP URINE DISEASE, TYPE II |
| Identified Mutation |
GLU163TER |
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| Gene |
DBT |
| Chromosomal Location |
1p31 |
| Allelic Variant 2 |
E163X; MAPLE SYRUP URINE DISEASE, TYPE II |
| Identified Mutation |
GLU163TER |
| Remarks |
See GM01366 Lymphoid; 1 previously affected brother expired at age 14 days; classical symptoms; bilateral optic atrophy and mental retardation; treated with diet therapy; absent BCKAD complex E2 subunit; donor subject is homozygous for a G>T transversion in exon 6 of the DBT (E2) gene producing a premature stop codon at glu-163 [Glu163Ter (E163X)] |
| Litwer S, Herring WJ, Danner DJ, Reversion of the maple syrup urine disease phenotype of impaired branched chain alpha-ketoacid dehydrogenase complex activity in fibroblasts from an affected child. J Biol Chem264:14597-600 1989 |
| PubMed ID: 2768232 |
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| 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 |
| dbSNP |
dbSNP ID: 14138 |
| Gene Cards |
DBT |
| Gene Ontology |
GO:0005515 protein binding |
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GO:0005739 mitochondrion |
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GO:0005947 alpha-ketoglutarate dehydrogenase complex (sensu Eukarya) |
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GO:0008152 metabolism |
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GO:0008415 acyltransferase activity |
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GO:0016740 transferase activity |
| NCBI Gene |
Gene ID:1629 |
| NCBI GTR |
248600 MAPLE SYRUP URINE DISEASE; MSUD |
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248610 DIHYDROLIPOAMIDE BRANCHED-CHAIN TRANSACYLASE; DBT |
| OMIM |
248600 MAPLE SYRUP URINE DISEASE; MSUD |
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248610 DIHYDROLIPOAMIDE BRANCHED-CHAIN TRANSACYLASE; DBT |
| Omim Description |
BCKD DEFICIENCY |
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BCKD, E1-ALPHA SUBUNIT, INCLUDED; BCKDE1A, INCLUDED |
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BRANCHED-CHAIN ALPHA-KETO ACID DEHYDROGENASE DEFICIENCY |
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BRANCHED-CHAIN KETO ACID DEHYDROGENASE E1, ALPHA POLYPEPTIDE, INCLUDED;BCKDHA, INCLUDED; BCKDH, INCLUDED |
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BRANCHED-CHAIN KETOACIDURIA |
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KETO ACID DECARBOXYLASE DEFICIENCYTHIAMINE-RESPONSIVE MSUD, INCLUDED |
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MAPLE SYRUP URINE DISEASE, TYPE IA |
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MSUD |
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MSUD, TYPE IA |
| Passage Frozen |
2 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| 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 |
- |
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