1. Home
  2. Condition Information
  3. Biotinidase deficiency

Biotinidase deficiency

(BIE-oh-tIn-I-DACE • di-FISH-uhn-see)

General Condition Information

Other Names

  • Biotinidase

Condition Type

Birth Prevalence

  • It is estimated that fewer than 70 babies are born with some form of this condition each year in the United States.
  • Visit GeneReviews to learn more about how often this condition occurs.

Screening Finding

Low biotinidase activity

What is biotinidase deficiency

Biotinidase deficiency is an inherited (genetic) condition that prevents the body from processing proteins, fats, and carbohydrates correctly.

Many different enzymes break down proteins, fats, and carbohydrates in your body. Some of these enzymes need a vitamin called biotin to work properly. Biotin’s form changes slightly when it interacts with these enzymes. A different enzyme called “biotinidase” recycles biotin back to its original form so it can be used again.

Biotinidase deficiency results when biotinidase is either missing or not made correctly. Without working biotinidase, the body cannot recycle enough biotin. Then, the enzymes that need biotin cannot work well. Adding biotin to your baby’s diet can allow these enzymes to function.

There are two types of biotinidase deficiency: severe (called profound biotinidase deficiency) and mild (called partial biotinidase deficiency). Which form your baby has depends on how well biotinidase is working in their body.

Without enough biotin, your baby has trouble making energy and getting rid of waste. Waste products from proteins, fats, and carbohydrates that are not completely broken down can be toxic at high levels. Without treatment, these toxins can cause damage that leads to the signs and symptoms of the condition.

Newborn Screening and Follow-Up

Condition Details

Treatment and Management

It is important to talk to your health care provider about which treatment(s) are best for your baby. The goal of treatment is to prevent the health problems caused by this condition.

Treatment may include biotin supplements to help the body break down food.

Children who receive early and ongoing treatment for biotinidase deficiency can have healthy growth and development.

Date Last Reviewed: