Learn About Biotinidase Deficiency

What is the definition of Biotinidase Deficiency?

Biotinidase deficiency is an inherited disorder in which the body is unable to recycle the vitamin biotin. If this condition is not recognized and treated, its signs and symptoms typically appear within the first few months of life, although it can also become apparent later in childhood.

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What are the causes of Biotinidase Deficiency?

Mutations in the BTD gene cause biotinidase deficiency. The BTD gene provides instructions for making an enzyme called biotinidase. This enzyme recycles 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. Free biotin is needed by enzymes called biotin-dependent carboxylases to break down fats, proteins, and carbohydrates. Because several of these enzymes are impaired in biotinidase deficiency, the condition is considered a form of multiple carboxylase deficiency.

How prevalent is Biotinidase Deficiency?

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

Is Biotinidase Deficiency an inherited disorder?

This condition is inherited in an autosomal recessive pattern, which means both copies of the BTD gene in each cell have mutations. The parents of an individual with biotinidase deficiency each carry one copy of the mutated gene, but they typically do not have any health problems associated with the condition.

Who are the top Biotinidase Deficiency Local Doctors?
Distinguished
Highly rated in
16
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Universidade Federal Do Rio Grande Do Sul

Brain Laboratory, Clinical Experimental Research Center 
Porto Alegre, RS, BR 

Fernanda Ludwig-Sperb is in Porto Alegre, Brazil. Ludwig-Sperb is rated as a Distinguished expert by MediFind in the treatment of Biotinidase Deficiency. She is also highly rated in 16 other conditions, according to our data. Her top areas of expertise are Mucolipidosis Type 4, Mucolipidosis 3, Sialidosis, and Biotinidase Deficiency.

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6
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Aga Khan University

Department Of Pediatrics, Pathology And Laboratory Medicine, Aga Khan University 
Karachi, SD, PK 

Bushra Afroze is in Karachi, Pakistan. Afroze is rated as a Distinguished expert by MediFind in the treatment of Biotinidase Deficiency. She is also highly rated in 6 other conditions, according to our data. Her top areas of expertise are Multiple Carboxylase Deficiency, Biotinidase Deficiency, Protein Deficiency, and Fructose-1,6-Bisphosphatase Deficiency.

 
 
 
 
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Distinguished
Highly rated in
6
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Laboratory Of Prenatal And Neonatal Screening

Neoscreen Ltd 
Athens, ESYE31, GR 

Georgia Thodi is in Athens, Greece. Thodi is rated as a Distinguished expert by MediFind in the treatment of Biotinidase Deficiency. She is also highly rated in 6 other conditions, according to our data. Her top areas of expertise are Biotinidase Deficiency, Galactokinase Deficiency, Galactose Epimerase Deficiency, and Classic Galactosemia.

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Who are the sources who wrote this article ?

Published Date: December 01, 2014Published By: National Institutes of Health

What are the Latest Advances for Biotinidase Deficiency?

There is no recent research available for this condition. Please check back because thousands of new papers are published every week and we strive to find and display the most recent relevant research as soon as it is available.