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Genetic and Rare Diseases Information Center (GARD)

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Biotinidase deficiency

Other Names for this Disease
  • Biotin deficiency
  • BTD deficiency
  • Late-onset biotin-responsive multiple carboxylase deficiency
  • Late-onset multiple carboxylase deficiency
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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.