NA05002
DNA from Fibroblast
Description:
GLUTARICACIDEMIA I
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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 |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
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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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Sample Source
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DNA from Fibroblast
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Race
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White
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Ethnicity
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IRISH
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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 |
6 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
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| glutaryl-CoA dehydrogenase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 1.3.99.7 |
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| glutaryl-CoA dehydrogenase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 1.3.99.7 |
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| Gene |
GCDH |
| Chromosomal Location |
19p13.2 |
| Allelic Variant 1 |
C115Y; GLUTARICACIDEMIA I |
| Identified Mutation |
CYS115TYR |
| |
| Gene |
GCDH |
| Chromosomal Location |
19p13.2 |
| Allelic Variant 2 |
P248L; GLUTARICACIDEMIA I |
| Identified Mutation |
PRO248LEU |
| Remarks |
Delayed motor & mental development, dystonia, spasticity, choreoathetosis, & metabolic acidosis; deficient glutarylCoA dehydrogenase activity; negative family history; donor subject is a compound heterozygote: one allele has a G>A transition at nucleotide 344 in exon 5 of the GCDH gene (C.344G>A) resulting in the substitution of tyrosine for cysteine at codon 115 [Cys115Tyr (C115Y)]; and the second allele has a C>T transition at nucleotide 743 in exon 7 (c.743C>T) resulting in a substitution of leucine for proline at codon 248 [Pro248Leu (P248L)] |
| Leibel RL, Shih VE, Goodman SI, Bauman ML, McCabe ER, Zwerdling RG, Bergman I, Costello C, Glutaric acidemia: a metabolic disorder causing progressive choreoathetosis. Neurology30:1163-8 1980 |
| PubMed ID: 6775244 |
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