Biotinidase Deficiency: Treatment, Cost and Side Effects

Biotinidase deficiency (BTD) is an inherited metabolic disorder resulting from lack of the enzyme Biotinidase. Under this condition your body fails to process Biotin, which is also referred to as the vitamin-H. Biotin is vital to our metabolic process and biotinidase permits your body to use biotin. Biotinidase deficiency is caused due to alteration in the BTD genes. The genetic characteristics related to BTD are transferred in an autosomal recessive manner. This condition is most commonly observed among infants who show symptoms of aciduria (lactic acid in the urine), eczema (inflammation or redness in the skin), hypotonia (poor muscle tone), seizures, hair loss, breathing problems and vision problems, hearing loss, lethargy etc. Biotinidase deficiency (BIOT) is an acquired condition where the body fails to recycle and reuse the vitamin Biotin. Since your body requires free biotin to break down the carbohydrates, proteins and fats effectively, newborns or individuals suffering from this condition are less able to process essential nutrients.

Biotinidase deficiency is diagnosed among infants through screening. The doctor will perform a clinical diagnosis by testing for blood serum biotinidase activity. Another way of confirming a diagnosis of the condition is going through family history. Prenatal testing of sample fluid from the womb for biotinidase activity is also available. Standard therapy or treatment for biotinidase deficiency is supplements of oral biotin.

Biotinidase deficiency symptoms are often confused with those of other disorders. Hence, your doctor will first treat your symptoms treating them as if they were caused by some other condition. If the symptoms do not disappear, then the doctor will consider other probable issues. Biotinidase deficiency should be treated as soon as the diagnosis is confirmed. The most effective and standard treatment procedure is an oral biotin supplement, usually prescribed at a dose of 5-10mg/d. If the enzymatic deficiency remains in spite of a dose of the supplement, the dose can be increased up to 40mg/d. People with acute deficiency may have to continue lifelong treatment with free biotin, while those with partial deficiency may not have to undergo treatment all their life. In addition to oral biotin supplements, children with neurologic disorders may need medical interventions for spasticity, bulbar dysfunction and developmental delay. Dystionia and spasticity related to inborn metabolic disorders can be treated with neurotoxins and intrathecal baclofen.

Biotin belongs typically to a group of water-soluble vitamin-B complex and since the human body prepares only a small amount of biotin, most of it must come from the daily diet. So the doctor will also prescribe intake of food that are rich in vitamins- egg, meat, fish, bread, vegetables like cauliflower.

People, mostly babies who are diagnosed with biotinidase deficiency at birth, or show symptoms of aciduria (lactic acid in the urine), eczema (inflammation or redness in the skin), hypotonia (poor muscle tone), seizures, hair loss, breathing problems and vision problems, hearing loss, lethargy etc are eligible for the treatment. This condition is a genetic order and hence greatly depends on a genetic or family history of BTD.

Those who do not have a family history of BTD, or do not show symptoms of the condition, are not eligible for the treatment.

Individuals who are prescribed high dosage of oral biotin supplements usually come across the following side effects- nausea, acne, allergy, diarrhea, acute respiratory problems, frequent urination, effects during pregnancy.

Post treatment guidelines primarily involve taking proper medications and supplements of oral biotin, following a healthy diet rich in vitamins to keep yourself hydrated, abstaining from alcohol, and following up with your doctor for thorough checkup and monitoring.

A high dose of biotin supplement will take 3-5 days to treat the symptoms of biotinidase deficiency, and will most likely disappear in 3-5 months.

The price of oral biotin supplements and tablets to treat biotinidase deficiency roughly varies between Rs.500 to Rs.1500.

Whether the results of the treatment for biotinidase deficiency are permanent or not, is not known. However, if the post treatment guidelines be followed, you may be able to improve the concentration of the biotin enzyme in your system which helps break down carbs and fat from the food you eat, and turn it into energy.

There are no such alternatives for the treatment of biotinidase deficiency other than oral biotin supplements or vitamin supplements, and a diet rich in essential vitamins.