Biotinidase Deficiency - Blood Quantitative Test Cost & Procedure

An autosomal recessive disorder called biotinidase deficiency is brought on by mutations in the biotinidase gene. The age of onset and clinical phenotype vary according to the level of biotinidase activity that is still present. One in 61000 people have both a profound and partial biotinidase deficiency. The diagnosis of biotinidase deficiency is made with this assay. Moreover, it is helpful for subsequent testing for a few organic acidurias.

What is a quantitative test for the enzyme biotinylase?

Biotinidase is the word of the enzyme that is furnished by the BTD allele. Without biotinidase activity, we cannot remove the vitamin biotin from the meal, and the body cannot utilise it. The biotinidase enzyme can recycle biotin from the enzymes that are significant for functioning. Due to a biotinidase deficit, some lipids, carbohydrates, or proteins cannot be broken down by certain enzymes known as carboxylases. Biotinidase Enzyme (Quantitative) Test is the name of the test used to assess biotinidase deficiency.

Biotinidase deficiency is an autosomal recessive disorder. A biotinidase allele modification causes this situation to arise. For some organic acidurias, this test is also helpful as a sort of follow-up testing.

Preparation for the Biotidinase Enzyme (Quantitative) Test:

Before performing the biotinidase enzyme (quantitative) test, we must make some preparations.

These are the preliminary steps.

• If we are receiving medical care, we should consult a doctor.

• If we experience any form of allergy, we should speak with a doctor.

• When extracting a blood sample from our bodies, we should remain calm (if we are terrified of the discomfort brought on by the insertion of the needle). Fast breathing will reduce the test's accuracy.

Applications for the (Quantitative) Biotidinase Enzyme Test

The quantitative biotinidase enzyme test works well. The uses of this test are listed below.

• It is employed to identify a biotinidase enzyme deficiency.

If this test is done as soon as possible, we won't have to deal with major conditions including decreased muscle tone, seizures, hearing and vision loss, breathing difficulties, hair loss, or skin rashes.

How to Perform a Quantitative Biotidinase Enzyme Test

In this procedure, a needle is inserted to draw blood from a vein in the hand that has been screened. The blood sample is permitted to be placed on filter paper as an assay medium. If we predeposit N-biotinyl-p-aminobenzoic acid on the common sample collection paper, we can accomplish this. The need of assay mixture analysis is a straightforward extraction process from a dried blood spot. This extraction stage is followed by LC-MS quantification of the product.