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Biotinidase deficiency
- Biotinidase deficiency is an inherited disorder in which the body is unable to recycle the vitamin biotin. If ... can also become apparent later in childhood.Profound biotinidase deficiency, the more severe form of the condition, can ...
- ... BTD gene have been identified in people with biotinidase deficiency. This disorder, if untreated, can affect many parts ... delayed development. Most of the mutations that cause biotinidase deficiency change single amino acids in the biotinidase enzyme. ...
- ... levels of biotinidase enzyme activity is suggestive of biotinidase deficiency , which is caused by BTD gene variants.) Learn ...
