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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White
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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 |
18 |
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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 |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 1.2.4.4; 1% activity. |
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| Remarks |
Deficient (1%) branched-chain keto-acid decarboxylase activity; high urinary leucine, isoleucine, and valine and their branched-chain alpha-keto acid derivatives |
| Danner DJ, Armstrong N, Heffelfinger SC, Sewell ET, Priest JH, Elsas LJ, Absence of branched chain acyl-transferase as a cause of maple syrup urine disease. J Clin Invest75:858-60 1985 |
| PubMed ID: 3980729 |
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| Danner DJ, Priest JH, Branched-chain ketoacid dehydrogenase activity and growth of normal and mutant human fibroblasts: the effect of branched-chain amino acid concentration in culture medium. Biochem Genet21:895-905 1983 |
| PubMed ID: 6661177 |
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| Elsas LJ, Pask BA, Wheeler FB, Perl DP, Truster S, Classical maple syrup urine disease: cofactor resistance. Metabolism21:929-44 1972 |
| PubMed ID: 4342010 |
| dbSNP |
dbSNP ID: 16564 |
| 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 |
18 |
| 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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