EARLY SIGNS
There are two main types of biotinidase deficiency (BIOT), differing in the severity of signs: severe “profound biotinidase deficiency” and mild “partial biotinidase deficiency.”
Signs of BIOT usually start within a few months after birth. In some cases, the symptoms may not appear until childhood. This is why early screening and identification is so important.
Early signs of BIOT include:
- Seizures
- Weak muscle tone (known as hypotonia)
- Trouble breathing
- Skin rash
- Hair loss
- Trouble balancing
- A fungal infection called candidiasis
Many of these signs can be triggered by illnesses or infections.
CAUSES
When we eat food, enzymes help break it down. One of these enzymes, biotinidase, helps us reuse and recycle the vitamin biotin. Our bodies need biotin to help break down fats, proteins and carbohydrates.
If your baby has biotinidase deficiency (BIOT), then his or her body either does not make enough or makes non-working biotinidase enzyme. When biotinidase is not working correctly, biotin cannot be recycled and reused. If biotin cannot be recycled, then there will not be enough biotin to break down carbohydrates, fats, and proteins. Carbohydrates, fats, and proteins then build-up in the blood, which can be harmful.
BIOT is an autosomal recessive genetic condition. This means that a child must inherit two copies of the non-working gene for BIOT, one from each parent, in order to have the condition. The parents of a child with an autosomal recessive condition each carry one copy of the non-working gene, but they typically do not show signs and symptoms of the condition. While having a child with BIOT is rare, when both parents are carriers, they can have more than one child with the condition.
TREATMENT
Supplements
Children with biotinidase deficiency (BIOT) often require lifelong treatment with biotin supplements. This is a natural vitamin found in food, but children with BIOT might not have enough of it in their bodies. Biotin supplements can help your baby’s body break down the fats, proteins, and carbohydrates found in food. Your baby’s doctor can help determine the right dosage of biotin for your child and write an appropriate prescription. to measure the levels of certain substances in the child’s blood.
EXPECTED OUTCOMES
If biotinidase deficiency (BIOT) is treated, your child will likely have healthy growth and development.
It is important to screen for and treat BIOT early because once your child experiences certain medical complications such as developmental delay, eye abnormalities, or hearing loss, treatment cannot reverse any damage that has occurred.