Description:
MAPLE SYRUP URINE DISEASE (MSUD), TYPE IA
BRANCHED-CHAIN KETO ACID DEHYDROGENASE E1, ALPHA POLYPEPTIDE; BCKDHA
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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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White
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Family Member
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2
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Relation to Proband
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father
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Confirmation
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Molecular characterization after cell line submission to CCR
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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 |
7 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME |
PCR analysis of DNA from this cell culture gave a positive result with a primer for Yq11, DYS227. |
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| 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; 30-60% activity. |
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| Gene |
BCKDHA |
| Chromosomal Location |
19q13.1-q13.2 |
| Allelic Variant 1 |
Y438N; MAPLE SYRUP URINE DISEASE, CLASSIC TYPE IA, DUE TO DEFICIENCY OF E1A |
| Identified Mutation |
TYR438ASN (FORMERLY TYR393ASN) |
| Remarks |
30-60% of normal branched-chain alphaketo acid decarboxylase activity; clinically unaffected father of GM00649A; heterozygous for Y438N (formerly designated Y393N) mutation of the BCKDHA gene |
| Sanderson MR, Fahlman RP, Wevrick R, The N-terminal domain of the Schaaf-Yang syndrome protein MAGEL2 likely has a role in RNA metabolism The Journal of biological chemistry297:100959 2021 |
| PubMed ID: 34265304 |
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| Love-Gregory LD, Grasela J, Hillman RE, Phillips CL, Evidence of common ancestry for the maple syrup urine disease (MSUD) Y438N allele in non-Mennonite MSUD patients. Mol Genet Metab75(1):79-90 2002 |
| PubMed ID: 11825067 |
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| 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 |
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| 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 |
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| 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 |
| dbSNP |
dbSNP ID: 10360 |
| Gene Cards |
BCKDHA |
| Gene Ontology |
GO:0003826 alpha-ketoacid dehydrogenase activity |
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GO:0003863 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity |
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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 |
| NCBI Gene |
Gene ID:593 |
| NCBI GTR |
248600 MAPLE SYRUP URINE DISEASE; MSUD |
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608348 BRANCHED-CHAIN KETO ACID DEHYDROGENASE E1, ALPHA POLYPEPTIDE; BCKDHA |
| OMIM |
248600 MAPLE SYRUP URINE DISEASE; MSUD |
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608348 BRANCHED-CHAIN KETO ACID DEHYDROGENASE E1, ALPHA POLYPEPTIDE; BCKDHA |
| 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 |
7 |
| Split Ratio |
1:5 |
| 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 |
- |
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