Biotinidase

Biotinidase is an enzyme that, in humans, is encoded by the BTD gene. Biotinidase is involved in the processing of biotin, a B vitamin, in the body. Deficiency of this enzyme can lead to a variety of health problems, including metabolic disorders, seizures, hearing loss, and skin rashes.

Function

Biotinidase is responsible for recycling the vitamin biotin, which is essential for many metabolic processes in the body. Biotin acts as a coenzyme for carboxylases, the enzymes that participate in the metabolism of fatty acids, glucose, and amino acids.

Clinical significance

Deficiency of biotinidase can lead to biotinidase deficiency, a disorder that if untreated, can cause delayed development, seizures, hypotonia (poor muscle tone), hearing loss, and eczema. This disorder is inherited in an autosomal recessive manner, meaning both copies of the gene in each cell have mutations.

Diagnosis

Biotinidase deficiency can be diagnosed through a blood test that measures the level of biotinidase enzyme activity. Genetic testing can also be used to identify mutations in the BTD gene.

Treatment

Treatment for biotinidase deficiency involves lifelong supplementation with biotin. With early diagnosis and treatment, individuals with biotinidase deficiency can often lead normal lives.

See also

• Biotin
• Biotinidase deficiency
• Metabolic disorder
• BTD gene

References

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External links

• BTD gene - Genetics Home Reference
• BTD gene - NCBI

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