Biotinidase Deficiency

Common Name(s)

Biotinidase Deficiency, Late-onset multiple carboxylase deficiency

Biotindase deficiency (BIOT) is a rare genetic condition. BIOT results from a mutation (error) in the BTD gene. People with BIOT cannot reuse and recycle the vitamin, biotin. Biotin is needed to break down the fats, proteins, and carbohydrates we get from eating food. Typically, enzymes (special proteins) break down the food we eat into substances our body can use. If our body does not make enough of a working enzyme, then the substances we need from our food may not be available. In this case, there is not enough functioning or working biotinidase to free the vitamin biotin from our food. As a result, other enzymes which need biotin to work correctly cannot function.

There are two forms of BIOT. If there is less than 10% working biotindase, profound BIOT occurs and the symptoms and damage are more severe. If there is 10-30% working biotindase then partial BIOT occurs with symptoms are less severe. Signs of this condition often begin to show a few months after birth. However, in some cases they do not appear until childhood. A few symptoms include seizures, weak muscle tone, trouble breathing, skin rash, hair loss, trouble balancing, or a fungal infection called candidiasis. Treatment for this condition includes biotin supplements to help break down the fats, proteins, and carbohydrates. Lifelong treatment is needed.

BIOT is autosomal recessive. Early diagnosis has shown to be effective in improving the health of individuals with BIOT. Many babies are screened at birth so that treatment may begin early, however the conditions included in newborn screening vary state by state. For more information, visit Baby’s First Test. Talk with your doctor to determine which treatment options are best for your child. Support groups are a good source of information. A genetic counselor will help you understand the genetics.

Source: Advocacy organizations associated with the condition.

 

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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CLIMB - Children Living with Inherited Metabolic Diseases

Climb is committed to fighting metabolic diseases through research, awareness and support. We are the UK's only dedicated organisation to provide advice, information and support on all metabolic diseases to children, young adults, families, carers and professionals.

Last Updated: 28 Jul 2015

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General Support Organizations

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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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CLIMB - Children Living with Inherited Metabolic Diseases

Climb is committed to fighting metabolic diseases through research, awareness and support. We are the UK's only dedicated organisation to provide advice, information and support on all metabolic diseases to children, young adults, families, carers and professionals.

http://www.climb.org.uk/

Last Updated: 28 Jul 2015

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General Support Organizations

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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 23 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.