Children and Youth with Special Health Needs (CYSHN)

Biotinidase Deficiency

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Condition Information

Family Support Resources

CONDITION INFORMATION

What is biotinidase deficiency?

Biotinidase deficiency is an inherited disorder in which the body is unable to reuse and recycle the vitamin biotin. This disorder is classified as a multiple carboxylase deficiency, a group of disorders characterized by impaired activity of certain enzymes that depend on biotin.

The signs and symptoms of biotinidase deficiency typically appear within the first few months of life, but the age of onset varies. Children with profound biotinidase deficiency, the more severe form of the condition, often have seizures, weak muscle tone (hypotonia), breathing problems, and delayed development. If left untreated, the disorder can lead to hearing loss, eye abnormalities and loss of vision, problems with movement and balance (ataxia), skin rashes, hair loss (alopecia), and a fungal infection called candidiasis. Immediate treatment and lifelong management with biotin supplements can prevent many of these complications.

Partial biotinidase deficiency is a milder form of this condition. Affected children experience hypotonia, skin rashes, and hair loss, but these problems may appear only during illness, infection, or other times of stress.

How common is biotinidase deficiency?

Profound or partial biotinidase deficiency occurs in approximately 1 in 60,000 newborns.

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What genes are related to biotinidase deficiency?

Mutations in the BTD gene cause biotinidase deficiency.

The BTD gene provides instructions for making an enzyme called biotinidase. This enzyme helps the body reuse biotin, a B vitamin found in foods such as liver, egg yolks, and milk. Biotinidase removes biotin that is bound to proteins in food, leaving the vitamin in its free (unbound) state. The body needs free biotin to break down fats, proteins, and carbohydrates effectively. Biotinidase also recycles biotin within the body.

Mutations in the BTD gene reduce or eliminate the activity of biotinidase. Profound biotinidase deficiency results when the activity of biotinidase is reduced to less than 10 percent of normal. Partial biotinidase deficiency occurs when biotinidase activity is reduced to between 10 percent and 30 percent of normal. Without enough of this enzyme, biotin cannot be separated from proteins or recycled normally. As a result, the body is less able to process important nutrients. These defects underlie the potentially serious medical problems associated with biotinidase deficiency.

How do people inherit biotinidase deficiency?

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

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Where can I find information about diagnosis, management, or treatment of biotinidase deficiency?

These resources address the diagnosis or management of biotinidase deficiency and may include treatment providers:

You might also find information on the diagnosis or management of biotinidase deficiency in:

Information on finding a healthcare provider can be found in the Genetics Home Reference Handbook: http://ghr.nlm.nih.gov/handbook/consult/findingprofessional

Where can I find additional information about biotinidase deficiency?

You may find the following resources about biotinidase deficiency helpful. These materials are written for the general public:

You may also be interested in these resources, which are designed for healthcare professionals and researchers:

What other names do people use for biotinidase deficiency?

  • BIOT
  • BTD deficiency
  • Carboxylase Deficiency, Multiple, Late-Onset
  • Late-onset biotin-responsive multiple carboxylase deficiency
  • Late-onset multiple carboxylase deficiency
  • Multiple Carboxylase Deficiency, Late-Onset

More information about naming genetic conditions, can be found at:

What if I still have specific questions about biotinidase deficiency?

Ask the Genetic and Rare Diseases Information Center: http://rarediseases.info.nih.gov/GARD/

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Where can I find general information about genetic conditions?

The Genetics Home Reference Handbook provides basic information about genetics in clear language: http://ghr.nlm.nih.gov/handbook

These links provide additional genetics resources that may be useful:

 

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FAMILY SUPPORT RESOURCES

Where can I find more information?

National Library of Medicine Genetics Home Reference: Biotinidase Deficiency http://ghr.nlm.nih.gov/condition/biotinidase-deficiency

Biotinidase Deficiency Family Support Group http://biotinidasedeficiency.20m.com/

CLIMB (Children Living with Inherited Metabolic Disorders) http://www.climb.org.uk

Family Village: Metabolic Disorders http://www.familyvillage.wisc.edu/lib_meta.htm

National Organization for Rare Disorders: Biotinidase Deficiency http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Biotinidase+deficiency

We would like to acknowledge the National Library of Medicine Genetics Home Reference website: http://ghr.nlm.nih.gov/condition/

The information on this fact sheet was obtained from this source.

THIS INFORMATION DOES NOT PROVIDE MEDICAL ADVICE. All content, including text, graphics, images and information are for general informational purposes only. You are encouraged to confer with your doctor or other health care professional with regard to information contained on this information sheet. After reading this information sheet, you are encouraged to review the information carefully with your doctor or other healthcare provider. The Content is not intended to be a substitute for professional medical advice, diagnosis or treatment. NEVER DISREGARD PROFESSIONAL MEDICAL ADVICE, OR DELAY IN SEEKING IT, BECAUSE OF SOMETHING YOU HAVE READ ON THIS INFORMATION SHEET.

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For additional genetics information and resources:

More help available from Children and Youth with Special Health Needs (CYSHN):

We would like to acknowledge the Star G Project. The information on the fact sheet was obtained from the Star G Project. For the most up-to-date information on the disorder please visit their web site at http://www.newbornscreening.info. Each fact sheet was extensively reviewed by family support groups, metabolic specialists across the country and the Star G steering committee.

THIS INFORMATION DOES NOT PROVIDE MEDICAL ADVICE. All content, including text, graphics, images and information are for general informational purposes only. You are encouraged to confer with your doctor or other health care professional with regard to information contained on this information sheet. After reading this information sheet, you are encouraged to review the information carefully with your doctor or other healthcare provider. The Content is not intended to be a substitute for professional medical advice, diagnosis or treatment. NEVER DISREGARD PROFESSIONAL MEDICAL ADVICE, OR DELAY IN SEEKING IT, BECAUSE OF SOMETHING YOU HAVE READ ON THIS INFORMATION SHEET.
Updated Wednesday, 25-Jul-2012 16:30:01 CDT