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Newborn Screening Ontario
Screening Results

Biotinidase DeficiencyDownload version for offline viewing or printing

At a Glance

Approximate Incidence in Ontario

1 in 60,000

Marker Measured


Screening can Prevent

Developmental delay, hypotonia, seizures, skin rash, hair loss, death


Biotin (vitamin) supplementation

  • Screening is Important
    • In Ontario, a heel prick is used to take a few drops of blood from each baby shortly after birth. The blood is tested for  more than 25 treatable diseases, including biotinidase deficiency.
    • A screen positive result means that more tests are needed to know whether or not a baby has biotinidase deficiency. It does not mean that a baby has biotinidase deficiency. Babies identified at a young age through screening can be treated early to help prevent health problems.
  • What is Biotinidase Deficiency?

    Biotinidase deficiency is a rare, inherited (genetic) condition.

    • Babies with biotinidase deficiency can not recycle a vitamin called biotin.
    • Biotin is important for the body to be able make certain fats and carbohydrates and break down protein.
    • Without enough biotin, the body is unable to process many important nutrients properly, which can cause serious health problems.
  • Screening Positive for Biotinidase Deficiency
    • It is normal for parents and guardians to feel worried when their baby has a screen positive result. A ‘screen positive’ result does not mean that a baby has biotinidase deficiency. It means that there is a chance that the baby might have biotinidase deficiency.
    • Follow-up testing is important to find out whether the baby truly has biotinidase deficiency.
    • The baby’s health care provider or a health care provider at a newborn screening Regional Treatment Centre will discuss the results with the baby’s family.
    • A follow-up blood test is arranged as soon as possible.
    • It can take a few days to weeks to find out if a baby truly has biotinidase deficiency or not. This waiting period can be hard for families.
  • Possible Follow-up Test Results
    • Normal – the baby does not have biotinidase deficiency.
    • Abnormal – the baby does have biotinidase deficiency and will need treatment. The family will be supported by a team of caring specialists.
    • Inconclusive – more testing is required. The baby will be followed closely by a specialist to ensure that he/she receives optimal care.
  • Signs and Symptoms

    Babies with biotinidase deficiency appear normal at birth, but serious symptoms may develop during the first months after birth especially during stress or illness.

    Early signs of the disease include:

    • seizures
    • low muscle tone
    • hair loss
    • rash
    • breathing problems
    • co-ordination problems

    Symptoms can range from mild to severe. There is no way to know at birth who will develop mild or severe problems. Treatment is simple with no side effects.

    Early treatment helps to prevent serious permanent health problems such as:

    • developmental delay/intellectual disability
    • hearing loss
    • vision loss
  • Treatment
    • Treatment may include giving the baby large daily doses of the vitamin biotin.
    • Treatment begins as early as possible and is life long.
    • Treatment is very good at preventing the health problems caused by this condition.
    • A team, including a metabolic doctor, cares for babies with biotinidase deficiency.
    • Babies with biotinidase deficiency have their health and development checked regularly.
  • Living with Biotinidase Deficiency
    • If treatment begins before symptoms appear, children with biotinidase deficiency will be as healthy and intelligent as other children their age.
    • Children with treated biotinidase deficiency can eat all types of food.