NA07711
DNA from Fibroblast
Description:
LACTIC ACIDOSIS, CONGENITAL INFANTILE
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases |
| Class |
Disorders of Carbohydrate Metabolism |
| Alternate IDs |
GM17382 [LACTIC ACIDOSIS, CONGENITAL INFANTILE] |
| Quantity |
0.050mg |
| Quantitation Method |
Please see our FAQ |
|
Cell Type
|
Fibroblast
|
|
Transformant
|
Untransformed
|
|
Sample Source
|
DNA from Fibroblast
|
|
Race
|
White
|
|
Ethnicity
|
EGYPTIAN
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| Passage Frozen |
11 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| Remarks |
Egyptian; parents are first cousins; EEG abnormalities; seizure activity; expired at age 1 month of respiratory failure; high lactate/pyruvate ratio; fibroblasts show decreased ability to oxidize pyruvate & abnormal NAD to NADH ratio |
| Robinson BH, Taylor J, Francois B, Beaudet AL, Peterson DF, Lactic acidosis, neurological deterioration and compromised cellular pyruvate oxidation due to a defect in the reoxidation of cytoplasmically generated NADH. Eur J Pediatr140:98-101 1983 |
| PubMed ID: 6884392 |
|
|