Biotinidase Deficiency - Quantitative - Blood - Test Price, Normal Range | Sprint Diagnostics Hyderabad

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₹ 4600


Biotinidase deficiency is a genetic disorder that affects the body’s ability to use biotin, which is a vitamin that helps to convert certain nutrients into energy. Biotinidase is an enzyme that aids in recycling biotin from the diet. People who have biotinidase deficiency are unable to utilize biotin effectively, which can result in various symptoms and complications. A quantitative blood test is a diagnostic tool that measures the activity of biotinidase in the blood, allowing healthcare professionals to diagnose or rule out biotinidase deficiency.

Biotinidase deficiency is an inherited condition, and newborns are usually screened for this disorder. However, sometimes symptoms can be subtle or not appear until later in life. The symptoms can include skin rashes, hair loss, seizures, and developmental delay. If left untreated, the condition can lead to various neurological and metabolic complications, some of which may be severe or irreversible. Early diagnosis and treatment with biotin supplements can help manage the symptoms and prevent complications.

Test Name Biotinidase Deficiency - Quantitative - Blood
Sample Type Blood
Preparations Required None
Report Time 2 Days
Price in Hyderabad ₹ 4600

What is biotinidase deficiency?

Biotinidase deficiency is a genetic disorder that impairs the body's ability to recycle and use biotin, a vitamin essential for converting food into energy.

How is biotinidase deficiency diagnosed?

It is diagnosed through a blood test that measures the activity of the biotinidase enzyme. Low activity levels may indicate biotinidase deficiency.

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What are the symptoms of biotinidase deficiency?

Symptoms can include skin rashes, hair loss, seizures, developmental delay, muscle weakness, and hearing loss.

Why is it important to diagnose biotinidase deficiency early?

Early diagnosis is essential for preventing severe complications such as neurological issues, developmental delays, and metabolic abnormalities. Early treatment with biotin supplements can help to manage symptoms.

Is fasting required for this test?

No, fasting is not required for the biotinidase deficiency test.

How often should one be tested for biotinidase deficiency?

Screening is typically performed at birth. Additional testing may be advised if symptoms suggest biotinidase deficiency later in life.

What are the normal values for this test?

Normal values can vary, but generally, biotinidase activity should be above 5 nmol/min/mL in blood. Levels below this range may indicate biotinidase deficiency.

Which factors can affect the levels of biotinidase?

Biotinidase levels are primarily affected by genetic factors. However, severe malnutrition might affect biotin levels and, subsequently, biotinidase activity.

How is biotinidase deficiency treated?

It is usually treated with lifelong biotin supplementation, which can help alleviate symptoms and prevent complications.

Can biotinidase deficiency be cured?

No, it is a lifelong condition, but it can be effectively managed with biotin supplementation.

What precautions should individuals with biotinidase deficiency take?

They should follow their doctor’s recommendations regarding biotin supplementation and have regular check-ups to monitor their condition.

Can biotinidase deficiency affect pregnancy?

Yes, it can affect both the mother and the baby. Pregnant women with biotinidase deficiency should seek medical guidance to manage the condition during pregnancy.

Is biotinidase deficiency the same as biotin deficiency?

No. Biotinidase deficiency is an enzyme deficiency that affects biotin recycling, while biotin deficiency refers to low levels of biotin in the body, which can be due to various causes.

What are the risks if biotinidase deficiency is left untreated?

If left untreated, it can lead to neurological problems, skin conditions, hair loss, and developmental delays.

Which doctor should I consult if I suspect biotinidase deficiency or if my test results are abnormal?

You should consult a doctor specializing in genetics or a metabolic disorder specialist if you suspect biotinidase deficiency or have abnormal test results.

Biotinidase deficiency is a condition that requires early diagnosis and prompt treatment to prevent serious complications. It is essential for individuals with this deficiency to adhere to a treatment plan and have regular check-ups to monitor their condition. Consult your doctor if you have concerns about biotinidase deficiency or if you experience symptoms associated with this disorder.

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