Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.


Genetic and Rare Diseases Information Center (GARD)

Print friendly version

Biotinidase deficiency

Other Names for this Disease
  • Biotin deficiency
  • BTD deficiency
  • Late-onset biotin-responsive multiple carboxylase deficiency
  • Late-onset multiple carboxylase deficiency
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.


What is biotinidase deficiency?

What are the signs and symptoms of biotinidase deficiency?

What is 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.[1]
Last updated: 7/7/2011

What are the signs and symptoms of biotinidase deficiency?

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.[1]

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.[1]

Last updated: 7/7/2011

  1. Biotinidase deficiency. Genetics Home Reference (GHR). 2008; Accessed 7/7/2011.