Biotinidase Deficiency

What is Biotinidase Deficiency

Biotinidase deficiency occurs when the body does not produce enough biotinidase.

Biotinidase is an enzyme that helps the body break down the vitamin biotin into a form it can use. The deficiency is present at birth. Without treatment it can lead to complications, such as:

  • Seizures.
  • Developmental delays.
  • Eczema.
  • Hearing loss.

What are the causes?

Biotinidase deficiency is caused by a genetic mutation. The condition develops in children who inherit the mutation from both of their parents.

What are the signs or symptoms?

Symptoms of this condition develop in the first few weeks or months of life. Symptoms may include:

  • Low muscle tone (hypotonia).
  • Seizures.
  • Hair loss.
  • Skin rash.
  • Developmental delays.
  • Greasy, scaly crusts on the head (cradle cap).
  • Conjunctivitis.

Rare but more severe symptoms include:

  • Lack of coordination of movement (ataxia).
  • Hearing loss.
  • Vision loss.
  • Drowsiness.
  • Breathing problems.
  • Vomiting and diarrhea.
  • Episodes of unconsciousness.
  • Enlarged liver and spleen.
  • Speech problems.

How is this diagnosed?

Before birth, this condition can be diagnosed by testing a sample of fluid collected from the mother’s womb. In newborns, this condition is usually diagnosed with screening blood tests. In older children, this condition may be diagnosed with a physical exam and blood tests.

How is this treated?

Biotinidase deficiency is treated with supplements, such as:

  • Biotin.
  • Vitamin H.
  • Coenzyme R.
  • Vitamin B complex.

Children with this condition will need to take supplements for the rest of their lives.

Follow these instructions at home:

  • Give supplements only as directed by your child’s health care provider.
  • Keep all follow-up visits as directed by the child’s health care provider. This is important.

Contact a health care provider if:

  • Your child has hair loss or cradle cap.
  • Your child has a skin rash.
  • Your child is unusually drowsy.
  • Your child has unexplained vomiting or diarrhea.
  • Your child seems to have developmental delays.
  • Your child’s treatment is not working.

Get help right away if:

  • Your baby seems to have hearing or vision loss.
  • Your baby loses consciousness.
  • Your baby has a seizure.
  • Your baby has trouble breathing.
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