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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Ethnicity
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MENNONITE
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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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| 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 sigmoidal or near sigmoidal kinetics for overall activity which was reduced from normal activity. Both fibroblasts and lymphoblasts showed a markedly decreased amount of the E1B (branched-chain alpha-keto acid decarboxylase) protein component of the BCKDH complex using an immunoblot analysis. The E1A subunit gave a weakly positive reaction and the E2 (dihydrolipoyl transacylase) and E3 (dihydrolipoyl dehydrogenase) proteins exhibited cross-reactive peptide. EC Number: 1.2.4.4 |
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| Remarks |
See GM01655 Lymphoid; 2 sisters died of MSUD; Mennonite kindred; def branchedchain keto-acid decarboxylase act in fibro and lympho: expired at age 5; def of BCKDH complex subunit E1B (branchedchain alpha-keto acid decarboxylase) |
| Huh TL, Casazza JP, Huh JW, Chi YT, Song BJ, Characterization of two cDNA clones for pyruvate dehydrogenase E1 beta subunit and its regulation in tricarboxylic acid cycle-deficient fibroblast. J Biol Chem265:13320-6 1990 |
| PubMed ID: 2376596 |
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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: 15539 |
| 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 |
2 |
| 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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