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Carrier Biotinidase Deficiency

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Based on your genetics, your genetic predisposition for Biotinidase Deficiency is

Negative

Positive

What does this mean?

Your genotype indicates that you do not carry the genetic mutation of biotinidase deficiency.

How Is Your Genetic Risk Calculated?

This result is based on the SNPs(single nucleotide polymorphism)that are associated with Biotinidase Deficiency.

Limitations

This report does not diagnose any health conditions or provide medical advice. This should not be used as a diagnostic tool.
This result is limited to existing scientific research.
Please consult with a healthcare professional before making any major lifestyle changes or if you have any other concerns about your results.

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What is Biotinidase Deficiency?

Biotinidase (BTD) deficiency is an inherited genetic disorder affecting the biotin vitamin recycling ability. The BTD gene coded for the production of biotinidase enzyme which responsible for helping the body reuse and recycle the biotin found in foods. Deficiency of BTD leads to decrease of biotin’s bioavailability, increased biotin excretion through urine and impaired biotin recycling. Early diagnosis and treatment of BTD deficiency is crucial to reduce the risk of irreversible neurological damage.

Possible Inheritance Modes for Biotinidase Deficiency

There is one inheritance mode of Biotinidase Deficiency. Inheritance mode is how a gene will be passed down from parent to offspring.

Autosomal Recessive

The mutated gene is a recessive gene located on one of the non-sex chromosomes (autosomes). You can get the disease if inheritance both copies of abnormal mutation from your parent.

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If you think you have the symptoms, consult with a healthcare professional.