Biotinidase Deficiency

Common Name(s)

Biotinidase Deficiency

Biotinidase deficiency is an inherited disorder in which the body is not able to process the vitamin biotin properly. Biotin, sometimes called vitamin H, is an important water-soluble vitamin (a vitamin that dissolves in water) that aids in the metabolism of fats, carbohydrates, and proteins. Infants with biotinidase deficiency may have seizures, weak muscle tone, skin rashes, hair loss and delayed development. Daily lifelong treatment with biotin supplements can prevent of manage these symptoms. Biotinidase deficiency is caused by mutations in the BTD gene. It is  inherited in an autosomal recessive fashion.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Biotinidase Deficiency" for support, advocacy or research.

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Biotinidase Deficiency Family Support Group

Our mission is to establish a forum to exchange information about biotinidase deficiency among affected individuals and with medical professionals and to advocate for the inclusion of biotinidase testing in all newborn screening programs.

Last Updated: 24 Nov 2009

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Biotinidase Deficiency" for support, advocacy or research.

Logo
Biotinidase Deficiency Family Support Group

Our mission is to establish a forum to exchange information about biotinidase deficiency among affected individuals and with medical professionals and to advocate for the inclusion of biotinidase testing in all newborn screening programs.

http://biotinidasedeficiency.20m.com

Last Updated: 24 Nov 2009

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Biotinidase Deficiency" returned 21 free, full-text research articles on human participants. First 3 results:

Biotinidase deficiency in childhood.
 

Author(s): Viswanathan Venkataraman, Padma Balaji, Debasis Panigrahi, Rafat Jamal

Journal: Neurol India. ;61(4):411-3.

 

This study reports the clinical, laboratory profile and outcome in seven patients with biotinidase deficiency. The serum biotinidase activity was assayed using spectrophotometric analysis. The age at presentation varied from day 1 of life to the 5 th month. Seizures were the presenting ...

Last Updated: 5 Sep 2013

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Clinical utility gene card for: biotinidase deficiency.
 

Author(s): Sébastien Küry, Vincent Ramaekers, Stéphane Bézieau, Barry Wolf

Journal: Eur. J. Hum. Genet.. 2012 May;20(5):.

 

Last Updated: 19 Apr 2012

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Biotinidase deficiency--clinching the diagnosis rapidly can make all the difference!
 

Author(s): Ashwin Rajendiran, Sowmya Sampath

Journal:

 

A 2-month-old male infant, born of second degree consanguineous parentage, presented with seizures not responding to phenytoin and phenobarbitone. His perinatal period had been uneventful and there was no family history of seizures. On examination, he had failure to thrive, perioral ...

Last Updated: 8 Jun 2012

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Biotinidase Deficiency" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.