Description:
MEVALONIC ACIDURIA; MEVA
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases |
| Class |
Disorders of Lipid Metabolism |
|
Cell Type
|
Fibroblast
|
|
Transformant
|
Untransformed
|
|
Race
|
White
|
|
Family Member
|
1
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| mevalonate kinase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 2.7.1.36; 2% activity. |
| |
| Remarks |
Psychomotor retardation; failure to thrive; cataract; dysmorphia; hypotonia; hepatosplenomegaly; 2% of control mevalonate kinase activity; passage 2 at CCR; see GM12015 Lymphoid |
| Hoffmann G, Gibson KM, Brandt IK, Bader PI, Wappner RS, Sweetman L, Mevalonic aciduria--an inborn error of cholesterol and nonsterol isoprene biosynthesis. N Engl J Med314:1610-4 1986 |
| PubMed ID: 3012338 |
| 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 |
- |
|
|