Description:
MAPLE SYRUP URINE DISEASE (MSUD), TYPE IA
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases |
| Class |
Disorders of Amino Acid Metabolism |
|
Cell Type
|
Fibroblast
|
|
Transformant
|
Untransformed
|
|
Race
|
White
|
|
Family Member
|
1
|
|
Relation to Proband
|
parent
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| Passage Frozen |
4 |
| |
| 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 |
| |
| Remarks |
Father of an affected child; proband not in Repository; deficient branched-chain keto-acid decarboxylase activity; 46,XY; spouse of GM00022; father of GM00242 |
| dbSNP |
dbSNP ID: 16545 |
| GEO |
GEO Accession No: GSM1257721 |
|
GEO Accession No: GSM1266906 |
|
GEO Accession No: GSM1267001 |
| NCBI GTR |
248600 MAPLE SYRUP URINE DISEASE; MSUD |
| OMIM |
248600 MAPLE SYRUP URINE DISEASE; MSUD |
| Omim Description |
BCKD DEFICIENCY |
| |
BCKD, E1-ALPHA SUBUNIT, INCLUDED; BCKDE1A, INCLUDED |
| |
BRANCHED-CHAIN ALPHA-KETO ACID DEHYDROGENASE DEFICIENCY |
| |
BRANCHED-CHAIN KETO ACID DEHYDROGENASE E1, ALPHA POLYPEPTIDE, INCLUDED;BCKDHA, INCLUDED; BCKDH, INCLUDED |
| |
BRANCHED-CHAIN KETOACIDURIA |
| |
KETO ACID DECARBOXYLASE DEFICIENCYTHIAMINE-RESPONSIVE MSUD, INCLUDED |
| |
MAPLE SYRUP URINE DISEASE, TYPE IA |
| |
MSUD |
| |
MSUD, TYPE IA |
| Passage Frozen |
4 |
| 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 |
- |
|
|