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NA08177 DNA from Fibroblast

Description:

BIOTINIDASE; BTD MULTIPLE CARBOXYLASE DEFICIENCY, LATE-ONSET, INCLUDED

Affected:

Yes

Sex:

Female

Age:

11 MO (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • Publications
  • External Links

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Class Disorders of Carbohydrate Metabolism
Quantity 50 µg
Quantitation Method Please see our FAQ
Cell Type Fibroblast
Transformant Untransformed
Sample Source DNA from Fibroblast
Race White
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
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

Characterizations

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Passage Frozen 2
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis
 
biotinidase According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.5.1.12; 0% activity.
 

Phenotypic Data

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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

Publications

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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

External Links

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dbSNP dbSNP ID: 22509
Gene Ontology GO:0004075 biotin carboxylase activity
GO:0006768 biotin metabolism
GO:0006807 nitrogen metabolism
GO:0007417 central nervous system development
GO:0008544 epidermis development
GO:0016810 hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds
GO:0047708 biotinidase activity
NCBI Gene Gene ID:686
NCBI GTR 253260 BIOTINIDASE DEFICIENCY
OMIM 253260 BIOTINIDASE DEFICIENCY
Omim Description BIOTINIDASE DEFICIENCY, INCLUDED
  BIOTINIDASE; BTDMULTIPLE CARBOXYLASE DEFICIENCY, LATE-ONSET, INCLUDED
  BTD DEFICIENCY, INCLUDED
Pricing
International/Commercial/For-profit:
$281.00USD
U.S. Academic/Non-profit/Government:
$139.00USD
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