Biotinidase deficiency
Biotinidase Deficiency
Biotinidase deficiency (pronounced bio-tin-i-dase deficiency) is a rare, inherited metabolic disorder. It is characterized by the body's inability to recycle the vitamin biotin, which is essential for cellular growth, the production of fatty acids, and the metabolism of fats and amino acids.
Etymology
The term "Biotinidase deficiency" is derived from the name of the enzyme "Biotinidase" and the term "deficiency", indicating a lack or shortage. Biotinidase is an enzyme that helps the body to reuse and recycle biotin.
Symptoms
The symptoms of Biotinidase deficiency can vary greatly from person to person. They may include seizures, weak muscle tone (hypotonia), breathing problems, hearing and vision loss, skin rashes, hair loss (alopecia), and developmental delay.
Causes
Biotinidase deficiency is caused by mutations in the BTD gene. This gene provides instructions for making an enzyme called biotinidase, which is responsible for recycling biotin in the body.
Diagnosis
The diagnosis of Biotinidase deficiency is usually made through newborn screening tests. These tests measure the level of biotinidase enzyme activity in the blood. Genetic testing can also be used to confirm the diagnosis.
Treatment
The treatment for Biotinidase deficiency involves lifelong supplementation with biotin. This treatment can prevent the symptoms and complications of the disorder if started early enough.
Prognosis
With early diagnosis and treatment, individuals with Biotinidase deficiency can lead normal, healthy lives. However, without treatment, the disorder can lead to severe neurological and metabolic problems.
See Also
External links
- Medical encyclopedia article on Biotinidase deficiency
- Wikipedia's article - Biotinidase deficiency
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