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Book Biotinidase Quantitative Test in Gandhi-nagar

Biotinidase is an enzyme, which is responsible for recycling biotin, a water-soluble B-vitamin, from biocytin and biotinyl-peptides derived from dietary proteins. Biotinidase deficiency, an autosomal recessive metabolic disorder, results in impaired biotin recycling and secondary biotin deficiency, leading to symptoms such as skin rash, alopecia, conjunctivitis, seizures, developmental delay, and metabolic acidosis. Diagnosis of biotinidase deficiency involves enzymatic testing to measure biotinidase activity in serum or dried blood spots, along with genetic testing to identify mutations in the BTD gene encoding biotinidase enzyme. Management of biotinidase deficiency involves lifelong biotin supplementation to prevent or alleviate symptoms of biotin deficiency and optimize clinical outcomes in affected individuals.

No special precaution required

24 hours Result

FULFILLED BY

Krsnaa Diagnostics Limited

Indora, Krsnaa Diagnostics Limited C/o Civil Hospital, Indora Distt. Kangra

4100

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Biotinidase is an enzyme, which is responsible for recycling biotin, a water-soluble B-vitamin, from biocytin and biotinyl-peptides derived from dietary proteins. Biotinidase deficiency, an autosomal recessive metabolic disorder, results in impaired biotin recycling and secondary biotin deficiency, leading to symptoms such as skin rash, alopecia, conjunctivitis, seizures, developmental delay, and metabolic acidosis. Diagnosis of biotinidase deficiency involves enzymatic testing to measure biotinidase activity in serum or dried blood spots, along with genetic testing to identify mutations in the BTD gene encoding biotinidase enzyme. Management of biotinidase deficiency involves lifelong biotin supplementation to prevent or alleviate symptoms of biotin deficiency and optimize clinical outcomes in affected individuals.

SAMPLES REQUIRED
Blood
PREPARATIONS
No special precaution required
EARLIEST REPORTS IN
24 hours
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How lab sample collection for Biotinidase Quantitative in Gandhi nagar works?
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Krsnaa Diagnostics Limited
FULFILLED BY
Krsnaa Diagnostics Limited
Krsnaa Diagnostics Limited is one of the leading hospital in Pune. The best healthcare professionals provide Comprehensive healthcare. It is located at Pimpri-Chinchwad.
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Frequently Asked Questions about Biotinidase Quantitative Test in Gandhi Nagar