NA03522
DNA from Fibroblast
Description:
HOLOCARBOXYLASE SYNTHETASE DEFICIENCY
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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 |
50 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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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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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
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| methylcrotonyl-CoA carboxylase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 6.4.1.4 |
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| Remarks |
Clinically affected; product of a twin pregnancy; holocarboxylase synthetase deficient; acidosis; "cat urine" odor; shock; responded well to biotin treatment; mother was given supplemental biotin in the last trimester of pregnancy due to history of two previously affected infants; deficient propionyl CoA carboxylase, pyruvate carboxylase, and B-methylcrotonyl CoA carboxylase |
| Roth KS, Allan L, Yang W, Foreman JW, Dakshinamurti K, Serum and urinary biotin levels during treatment of holocarboxylase synthetase deficiency. Clin Chim Acta109:337-40 1981 |
| PubMed ID: 7226522 |
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| Roth KS, Yang W, Foremann JW, Rothman R, Segal S, Holocarboxylase synthetase deficiency: a biotin-responsive organic acidemia. J Pediatr96:845-9 1980 |
| PubMed ID: 7365583 |
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| Roth K, Cohn R, Yandrasitz J, Preti G, Dodd P, Segal S, Beta-methylcrotonic aciduria associated with lactic acidosis The Journal of pediatrics88:229-35 1976 |
| PubMed ID: 1249684 |
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