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 24 free, full-text research articles on human participants. First 3 results:

Newborn screening for congenital hypothyroidism, galactosemia and biotinidase deficiency in Uttar Pradesh, India.
 

Author(s): Vignesh Gopalakrishnan, Kriti Joshi, Shubha Phadke, Preeti Dabadghao, Meenal Agarwal, Vinita Das, Suruchi Jain, Sanjay Gambhir, Bhaskar Gupta, Amita Pandey, Deepa Kapoor, Mala Kumar, Vijayalakshmi Bhatia

Journal: Indian Pediatr. 2014 Sep;51(9):701-5.

 

To assess feasibility and recall rates for newborn screening for congenital hypothyroidism, galactosemia and biotinidase deficiency in a predominantly rural and inner city population in and around the City of Lucknow in Uttar Pradesh, India.

Last Updated: 17 Sep 2014

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Biotinidase deficiency: clinical and genetic studies of 38 Brazilian patients.
 

Author(s): Taciane Borsatto, Fernanda Sperb-Ludwig, Louise L C Pinto, Gisele R De Luca, Francisca L Carvalho, Carolina F M De Souza, Paula F V De Medeiros, Charles M Lourenço, Reinaldo Lo Filho, Eurico C Neto, Pricila Bernardi, Sandra Leistner-Segal, Ida V Schwartz

Journal:

 

Biotinidase deficiency (BD) is an inborn error of metabolism in which some genetic variants correlate with the level of enzyme activity. Biotinidase activity, however, may be artifactually low due to enzyme lability, premature birth, and jaundice; this hinders both phenotypic classification ...

Last Updated: 24 Sep 2014

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Novel application of digital microfluidics for the detection of biotinidase deficiency in newborns.
 

Author(s): Carrie Graham, Ramakrishna S Sista, Jairus Kleinert, Ning Wu, Allen Eckhardt, Deeksha Bali, David S Millington, Vamsee K Pamula

Journal: Clin. Biochem.. 2013 Dec;46(18):1889-91.

 

Newborn screening for biotinidase deficiency can be performed using a fluorometric enzyme assay on dried blood spot specimens. As a pre-requisite to the consolidation of different enzymatic assays onto a single platform, we describe here a novel analytical method for detecting biotinidase ...

Last Updated: 11 Dec 2013

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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.