Biotinidase Deficiency: The Disease Caused by Lack of Vitamin H

December 2, 2025 •

4 min read

While dietary deficiency of biotin (Vitamin H) is extremely rare in healthy individuals, an inherited genetic disorder called biotinidase deficiency prevents the body from recycling this essential nutrient, leading to serious health issues. This metabolic disorder, which is part of newborn screening in many countries, can cause profound neurological and dermatological problems if left untreated.

Quick Summary

Biotinidase deficiency, a rare inherited disorder, is the primary disease linked to a lack of vitamin H (biotin). It prevents the body from reusing the vitamin, leading to a host of symptoms, including seizures, skin rashes, and hair loss. Early diagnosis and lifelong biotin supplementation are crucial for preventing irreversible complications.

Key Points

Primary Disease: Biotinidase deficiency, a genetic disorder, is the main disease caused by an inability to utilize vitamin H (biotin).
Genetic Cause: A mutation in the BTD gene prevents the body from producing the biotinidase enzyme needed to recycle biotin.
Common Symptoms: Deficiency symptoms include hair loss (alopecia), red scaly skin rashes, seizures, and developmental delays, especially in infants.
Early Diagnosis is Key: Newborn screening for biotinidase deficiency is crucial for prompt treatment to prevent irreversible damage.
Treatment: Lifelong oral biotin supplementation is the standard and highly effective treatment for biotinidase deficiency.
Acquired Deficiency: Though rare, an acquired deficiency can result from a poor diet, prolonged antibiotic use, or raw egg white consumption.
Risk Factors: Risk factors for biotin deficiency include inherited disorders, chronic alcoholism, long-term medication use (antibiotics, anticonvulsants), and pregnancy.

Understanding Biotin and its Role

Vitamin H, more commonly known as biotin or vitamin B7, is a vital water-soluble nutrient that helps the body convert fats, carbohydrates, and proteins from food into usable energy. As a coenzyme for carboxylase enzymes, biotin is critical for metabolic processes and supports a healthy nervous system, skin, and hair. The human body, however, cannot synthesize biotin and relies on dietary intake and production by gut bacteria to maintain adequate levels. This is why a deficiency caused by diet is exceptionally uncommon in those with a balanced diet.

The Genetic Link to a Lack of Vitamin H

While a true lack of dietary biotin is rare, the most significant disease caused by a deficiency in this nutrient is biotinidase deficiency (BTD). This is a rare, inherited autosomal recessive disorder where the body cannot produce a functional biotinidase enzyme. The enzyme's role is to free biotin from proteins in food and to recycle biotin already in the body. Without it, even with adequate dietary intake, the body cannot effectively utilize biotin, leading to a deficiency. Newborn screening programs in the United States and many other countries test for this condition, allowing for early intervention.

Symptoms of Biotinidase Deficiency

Symptoms of biotinidase deficiency can manifest in infancy, childhood, or, in milder forms, later in life. These symptoms are often severe and progressive if the condition goes undiagnosed and untreated. The clinical presentation involves multiple systems of the body, particularly the skin, hair, and nervous system.

Dermatological Issues: A scaly, red rash known as periorificial dermatitis, especially around the eyes, nose, and mouth, is a common sign. This is often accompanied by skin infections and candidiasis. Hair problems are also prominent, including brittle hair and alopecia (hair loss).
Neurological Problems: The central nervous system is heavily affected. Symptoms can include seizures, poor muscle tone (hypotonia), developmental delays in infants, and issues with coordination (ataxia). In some cases, more severe neurological symptoms like lethargy, hallucinations, and depression may appear in adults.
Sensory and Metabolic Complications: Untreated individuals, especially infants, can develop sensorineural hearing loss, optic atrophy, and vision problems. The metabolic disruption caused by the deficiency can also lead to life-threatening conditions like ketolactic acidosis.

Treatment and Prognosis

The treatment for biotinidase deficiency is straightforward and highly effective: lifelong oral supplementation with biotin. For profound deficiency, doses typically range from 5 to 20 mg per day. With early detection through newborn screening and consistent treatment, individuals can avoid the severe symptoms and live healthy, normal lives. Unfortunately, if diagnosis and treatment are delayed, some complications, particularly neurological damage and hearing loss, may become permanent.

Comparison: Biotinidase Deficiency vs. Acquired Deficiency

While biotinidase deficiency is a genetic disorder, acquired biotin deficiency is possible, though rare, and arises from external factors. The table below compares these two types.


Feature	Biotinidase Deficiency	Acquired Biotin Deficiency
Cause	Inherited genetic mutation preventing the recycling of biotin.	Excessive intake of raw egg whites, chronic antibiotic or anticonvulsant use, pregnancy, or intestinal malabsorption.
Prevalence	Approximately 1 in 60,000 newborns have profound or partial BTD.	Very rare, typically seen in individuals with specific risk factors.
Onset	Often in infancy or early childhood, but can be later depending on severity.	Variable; depends on the duration of risk factors, such as dietary or medication habits.
Symptoms	Often severe and involve multiple body systems (neurological, dermatological).	Less severe, though can include hair loss, skin rashes, and neurological symptoms.
Treatment	Lifelong oral biotin supplementation.	Addressing the underlying cause (e.g., stopping raw egg white consumption) and temporary biotin supplementation.
Prognosis	Excellent with early, lifelong treatment; delayed treatment can cause irreversible damage.	Full recovery once the cause is removed and biotin is supplemented.

Prevention and Risk Factors

Preventing biotin deficiency primarily involves understanding and addressing the various risk factors. For the genetic condition, newborn screening is the most effective preventative measure against severe outcomes. For acquired deficiency, prevention focuses on lifestyle and management of other medical conditions.

Avoid excessive consumption of raw egg whites, which contain avidin that binds to biotin and inhibits absorption.
For individuals on long-term anticonvulsant or antibiotic therapies, biotin supplementation may be necessary.
Pregnant and breastfeeding women have an increased need for biotin and may be at risk for marginal deficiency. Adequate dietary intake or supplementation is often recommended.
Ensure total parenteral nutrition (IV feeding) includes sufficient biotin if used for extended periods.

Conclusion

In conclusion, the most serious disease directly resulting from a functional lack of vitamin H is biotinidase deficiency, a rare but treatable genetic disorder. While a dietary biotin deficiency is highly unlikely for most healthy individuals, understanding the causes of biotinidase deficiency is vital for protecting the health of at-risk infants. Early diagnosis through newborn screening, coupled with immediate and lifelong biotin supplementation, can prevent the severe neurological, developmental, and dermatological symptoms associated with this condition. For those with acquired deficiency, managing risk factors and temporary supplementation can quickly resolve symptoms. Awareness of the signs, symptoms, and risk factors associated with biotin deficiency is crucial for timely and effective intervention.

For more detailed information on genetic disorders, consult reliable medical resources such as the National Organization for Rare Disorders (NORD).

Frequently Asked Questions

Vitamin H is another name for biotin or vitamin B7. It is a water-soluble vitamin essential for converting food into energy and supporting various metabolic processes.

No, a simple dietary biotin deficiency is very rare in healthy individuals because biotin is widely available in many foods and is also produced by intestinal bacteria.

Biotinidase deficiency is an inherited genetic disorder caused by a mutation in the BTD gene. A person must inherit a mutated gene from both parents to be affected.

Early signs in infants often include seizures, poor muscle tone (hypotonia), hair loss, and a distinctive scaly, red rash around body openings.

Yes. Raw egg whites contain a protein called avidin, which binds tightly to biotin in the gut and prevents its absorption. Cooking denatures avidin, eliminating this risk.

Yes, it is highly treatable. Lifelong oral supplementation with biotin is very effective and can prevent all symptoms if started early, typically via newborn screening.

Yes, high-dose biotin supplements can cause false results in certain lab tests. It is important to inform your doctor about any supplements you are taking before having blood work done.