Description:
MAPLE SYRUP URINE DISEASE (MSUD), TYPE IA
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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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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 |
15 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
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| 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). |
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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; 2-5% activity. |
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| Remarks |
Quadriplegic and severely retarded; brother also has MSUD; 2-5% of normal branched-chain amino acid decarboxylase activity; positive for cross-reactive material for BCKDH complex subunits E1A, E2, and E3 |
| Eisenstein, Characterization of branch chain keto acid dehydrogenase (BCKAD) deficiency in maple syrup urine disease (MSUD). Am J Hum Genet37:A8 (1985): 1985 |
| PubMed ID: |
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| Elsas LJ 2d, Perinatal diagnosis of the inborn errors of metabolism. J Med Assoc Ga60:308-311 0000 |
| PubMed ID: 5093796 |
| dbSNP |
dbSNP ID: 13927 |
| NCBI GTR |
248600 MAPLE SYRUP URINE DISEASE; MSUD |
| OMIM |
248600 MAPLE SYRUP URINE DISEASE; MSUD |
| 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 |
15 |
| 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 |
- |
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