BIOTINIDASE ENZYME ASSAY

Any Other Information

1) What Technique is used to do this test?

This test is done by Wolf’s colorimetric method. Normal biotinidase enzyme activity has values in the range of 4.5 - 7.5 - 12.0 nmol / min / ml. Partial deficiency will fall in the range of 2.5 - 4.5 nmol / min / ml. Levels < 2.5 nmol / min / ml indicates complete deficiency. Classical severe biotinidase deficiency should have activity less than 5 % of normal. However enzyme activities up to 10 % are also considered as deficient.
 

2) Which body enzymes use biotin?

Carboxylases use free biotin. Biotin-dependant carboxylases are an important group of enzymes required for normal processing and breakdown of carbohydrates, fats and proteins. Biotin is attached to these carboxylases through an amino acid called lysine to form a complex called biocytin. Biotinidase removes biotin from biocytin making it again available for reutilization by other enzymes. In case of biotinidase deficiency, carboxylases become non-functional, so this condition is also called as multiple carboxylase deficiency.

3) Can human body produce biotin?

No. Human body cannot produce biotin by itself. Sources of biotin are diet, internal recycling of biotin with the help of biotinidase and to some extent from intestinal bacteria.

4) What is Biotinidase enzyme deficiency?

Biotinidase enzyme deficiency is an autosomal recessive inherited disorder in which the body unable to recycle the biotin vitamin and provide it in free form. When biotinidase activity is deficient, biotin cannot be made available from ingested food nor be recycled inside the body.

5) Is this enzyme deficiency a serious disorder?

Yes. If complete biotinidase deficiency is not recognized on time and treated, it can become serious and at times life threatening. Signs and symptoms can typically appear within the first few weeks or months of life, although it can also be manifested later in childhood. Without treatment with biotin, infants with this deficiency can go into coma and may even die.

6) What are the findings in complete biotinidase enzyme deficiency?

Complete and profound biotinidase deficiency can present with seizures (earliest symptom in new born), muscle weakness and low tone (hypotonia), breathing difficulty, loss of  hearing (sensorineural hearing loss), conjunctivitis or loss of eyesight, problems in movement and balancing (ataxia), lack of co-ordination, hepatospleenomegaly, skin rashes, eczema and hair loss (alopecia). It also increases chances of getting fungal infection called candidiasis. Children suffering with this disorder can have involvement of brain and nervous system resulting in developmental delay, behavioral disorders, learning disabilities and speech problems. 

7) What is Partial biotinidase enzyme deficiency?

Partial deficiency is a milder form of this condition. Partial deficiency is generally not considered to be symptomatic unless associated with some other stressful conditions like infection or carnitine deficiency. Partial deficiency has also been noted in organic acidemias involving carboxylase enzymes or other organic acidemias like propionic academia, isovaleric academia or methylmalonic acidemia. In cases of partial deficiency it is always necessary to rule out other inborn errors of metabolism by gas chromatography or mass spectrometry. Nevertheless even in partial deficiency, if untreated, affected children can suffer from hypotonia, skin rashes, and hair loss, but these problems will arise only during some illness, infection, or some ongoing stress.

8) Is this condition treatable?

Yes. Biotinidase deficiency is now considered as treatable by Tab. Biotin supplementation. Lifelong treatment is needed to prevent various complications resulting from enzyme deficiency. External biotin treatment will also help in improving symptoms which are already developed including seizures in newborn.

FAQs about BIOTINIDASE ENZYME ASSAY

BIOTINIDASE ENZYME ASSAY Near Me

Find a BIOTINIDASE ENZYME ASSAY Lab Near You in Mumbai, Thane and Navi Mumbai