NA08177
DNA from Fibroblast
Description:
BIOTINIDASE; BTD MULTIPLE CARBOXYLASE DEFICIENCY, LATE-ONSET, INCLUDED
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of Carbohydrate 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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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, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| biotinidase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.5.1.12; 0% activity. |
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| Remarks |
Undetected serum biotinidase activity; normal weight, length, and head circumference; normal develop milestones, serum electrolytes, and lactate concentrations; slight hypertonia, brisk deep-tendon reflexes bilaterally, and very fine scalp hair; no organic aciduria |
| Wolf B, Heard GS, Jefferson LG, Proud VK, Nance WE, Weissbecker KA, Clinical findings in four children with biotinidase deficiency detected through a statewide neonatal screening program. N Engl J Med313:16-9 1985 |
| PubMed ID: 4000223 |
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