What Is Biotinidase Deficiency in Newborns?
Biotinidase is an enzyme that helps in the recycling and reuse of biotin. The deficiency of biotinidase enzymes is caused by the mutation or defects in the BTD gene. These defects in the BTD gene lead to a rare genetic disorder where the newborn will not be able to reuse and recycle the vitamin biotin. It begins very early after the birth of the baby. A deficiency of vitamin B alters the metabolic process. It causes various symptoms in new babies, including gene activity. This condition is rare, occurs in one in 60,000 newborns, and is most commonly seen in European countries.
What Are the Potential Causes of Biotinidase Deficiency?
As mentioned, biotinidase deficiency is a genetic condition. The condition is caused by a mutation in the BTD gene. The BTD gene helps to command the body to produce biotinidase enzymes. This enzyme is mainly involved in the metabolic process and helps recycle and reuse vitamin biotin, also known as Vitamin H. The deficiency in the biotinidase enzyme may result in various complications if it is not treated. This condition is inherited from autosomal recessive genes. That is, both copies of the BTD gene have cell mutations. Parents with this condition have a high chance of carrying one copy of the mutated gene, and some may not show any symptoms or health conditions associated with the biotinidase deficiency.
What Are the Types of Biotinidase Deficiency?
Biotinidase deficiency is primarily categorized into two types based on the severity of the condition:
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Profound Biotinidase Deficiency: This is the more severe form of the deficiency, where the biotinidase enzyme activity is significantly reduced or absent. Individuals with profound biotinidase deficiency often experience more severe symptoms and may require higher doses of biotin supplementation.
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Partial Biotinidase Deficiency: This form of deficiency involves a partial reduction in biotinidase enzyme activity. The symptoms associated with partial biotinidase deficiency are typically milder compared to the profound form, and lower doses of biotin supplementation may be sufficient to manage the condition.
What Are the Signs and Symptoms of Biotinidase?
The signs and symptoms may vary depending on the severity and type of the condition.
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Partial Biotinidase Deficiency: It is a milder form of biotinidase deficiency, and the conditions may have milder symptoms when compared to profound biotinidase deficiency.
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Severe Profound Biotinidase: It is a severe form of biotinidase deficiency where the condition can cause the following signs and symptoms:
Physical Signs and Symptoms:
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Skin rashes.
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Weak muscle tone.
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Vision loss.
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Loss of hair.
Medical Signs and Symptoms:
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Breathing problems.
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Pink eye.
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Enlarged liver and spleen.
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Feeding problems, vomiting, and diarrhea.
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Candidiasis (a fungal infection).
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Accumulation of organic acids in blood and urine.
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Hearing problems
Behavioral Signs and Symptoms:
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Poor intellectual functioning and developmental disabilities have trouble with communication, learning, and completing tasks.
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Lack of energy.
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Imbalance and problem in movement.
Untreated Signs and Symptoms of Biotinidase Deficiency:
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Vision and hearing impairment.
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Seizures.
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Coma.
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Poor developmental and intellectual functioning.
Affected children had delayed development in milestones and delayed growth. About 70 percent of the children left untreated may have seizures. Infant seizures may vary from adult seizures. The seizures may be the first sign of biotinidase deficiency. Because the seizures are caused mainly due to the infant's inability to recycle biotin. The infant seizure may have the following symptoms:
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Staring spells.
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Jerky movement of arms and legs.
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Stiffening of the body.
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Flickering of eyelids.
What Are the Screening Methods for Biotinidase Deficiency?
A few years ago, there were no screening tests done on newborns leading to various complications, but in recent years doctors have planned and made screening tests worldwide, which benefits the newborn in various ways. Newborn screening is done on all babies soon after birth to check for any abnormalities or deficiencies the baby is born with. In the regular way of screening, a sample of blood is collected from the baby to check the abnormalities. Then if there are any low values of biotinidase, the condition is called positive biotinidase deficiency. One need not worry about the low values soon after birth because the low biotinidase deficiency may be due to overheating, the sample may be low, the sample collected may be too early, the might have collected soon after the feeding, or any other condition may give faulty results so in order to avoid these faulty results, the screening test has to be repeated a few weeks later to confirm the values. The treatment should be started immediately if the values are low in the second screening test because the effects of untreated start very few weeks after birth, and the symptoms may worsen if left untreated.
How to Treat the Condition of Biotinidase Deficiency?
The treatment for biotinidase deficiency involves lifelong biotin supplementation. Biotin, also known as vitamin B7, is a water-soluble vitamin that plays a crucial role in various metabolic processes. In individuals with biotinidase deficiency, the body is unable to properly recycle and utilize biotin.
The standard treatment for biotinidase deficiency is to provide a daily oral dose of biotin in the form of a supplement. This helps to ensure that the body has sufficient biotin levels to support normal metabolic functions. The recommended dosage may vary depending on the severity of the deficiency and is typically determined by a healthcare professional specializing in metabolic disorders.
Early diagnosis and prompt initiation of treatment are crucial to prevent the complications associated with biotinidase deficiency. If left untreated, the condition can lead to neurological symptoms, such as seizures, developmental delay, and hearing and vision problems. However, with appropriate and timely treatment, individuals with biotinidase deficiency can lead healthy lives and prevent the progression of symptoms.
It is important for individuals with biotinidase deficiency to continue taking biotin supplements as prescribed and to undergo regular follow-up visits with their healthcare provider to monitor their condition and adjust the treatment regimen if necessary. Additionally, genetic counseling may be recommended for families affected by biotinidase deficiency to understand the inheritance pattern and the risk of passing the condition to future children.
Conclusion
Biotinidase enzyme deficiency is a rare genetic disorder that is inherited from parents. The condition is caused by the autosomal recessive gene. The infant may not show any symptoms soon after birth, but proper screening has to be done. The treatment should be started immediately once the diagnosis is confirmed. Talk to the health care provider, and do not panic in case any of the symptoms are noticed. The healthcare provider may guide on the best treatment plan and how the biotin supplements are to be given to the baby.
