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Don’t fight Biotinidase deficiency alone.
Find your community on the free RareGuru App.Biotinidase deficiency is an inherited disorder in which the body is unable to recycle the vitamin biotin. The disorder may become apparent in the first few months of life, or later in childhood. The more severe form of the disorder is called 'profound biotinidase deficiency' and may cause delayed development, seizures, weak muscle tone (hypotonia), breathing problems, hearing and vision loss, problems with movement and balance (ataxia), skin rashes, hair loss (alopecia), and a fungal infection called candidiasis. The milder form is called 'partial biotinidase deficiency'; without treatment, affected children may experience hypotonia, skin rashes, and hair loss. In some cases, these symptoms only appear during illness, infection, or other times of stress on the body. Biotinidase deficiency is caused by mutations in the BTD gene and is inherited in an autosomal recessive manner. Lifelong treatment with biotin can prevent symptoms and complications from occurring or improve them if they have already developed.
Source: GARD Last updated on 05-01-20
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, may 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 may experience hypotonia, skin rashes, and hair loss, but these problems may appear only during illness, infection, or other times of stress on the body.
Last updated on 05-01-20
We are not aware of evidence in the medical literature that taking biotin during pregnancy causes birth defects. Biotin is a vitamin (a B vitamin) that is found in numerous foods, and is an important component of enzymes in the body that break down certain substances like fats and carbohydrates.
On the contrary, animal studies have raised concern that a deficiency (too little) of biotin could cause birth defects. Maternal biotin deficiency in some animals has been shown to cause cleft palate and other malformations. However, whether biotin deficiency causes birth defects in humans has not been well-studied. It is known that a number of birth defects are potentially related to nutrient deficiencies, or preventable by nutrient supplementation.
Women with biotinidase deficiency who are planning a pregnancy, or are pregnant, should consult with their health care provider about their treatment plan and discuss the amount of biotin that is recommended. The amount of biotin recommended when trying to become pregnant, or during pregnancy, may be different from during other stages of adulthood.
Last updated on 05-01-20
Researchers believe that most cases of cleft lip and/or cleft palate are caused by an interaction of genetic and environmental factors. In many cases, the exact cause is unknown. Genetic factors may include inheriting a version of a gene that may cause clefting, or having a genetic syndrome in which cleft lip or palate is one of its features. Environmental factors that may contribute to cleft lip or palate may include drugs or medications; viruses; or other factors. In some cases, a baby may inherit a gene that makes them more likely to have cleft lip and/or palate, and an environmental trigger then causes the cleft to occur.Cleft lip and/or palate are among the most common types of birth defects, occurring in about 1 in 594 newborns.
Last updated on 05-01-20
There is limited information available in the medical literature about biotinidase deficiency during pregnancy. Biotinidase deficiency was first described as a distinct disorder in 1983, so there have not been many years of experience with females being of childbearing age. A 2005 case report described a successful pregnancy in a woman being treated with biotin for biotinidase deficiency throughout her pregnancy. Her laboratory studies (plasma acylcarnitine profile and urine organic acids) were normal when analyzed during the pregnancy. The pregnancy was uneventful and her infant was healthy after birth and was developmentally normal at 3 months of age. We are not aware of studies that discuss women with biotinidase deficiency who are untreated during pregnancy. Animal studies have raised concern that a deficiency of biotin could cause birth defects. However, this remains to be well-studied in humans.
Last updated on 05-01-20
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