Paula and Bobby
Parents of Lillie
What is Biotinidase Deficiency?
This rare disease is a condition where biotin is not produced in sufficient amounts. Biotin is responsible for breaking down fats, carbohydrates and proteins in the body and a deficiency can cause a number of symptoms.
Main symptoms of the syndrome include, low muscle tone, intellectual disability and skin and hair problems.
What gene changes cause Biotinidase Deficiency?
Mutations to the BTD gene are responsible for the condition. It is inherited in an autosomal recessive pattern.
Autosomal recessive inheritance means an affected individual receives one copy of a mutated gene from each of their parents, giving them two copies of a mutated gene. Parents, who carry only one copy of the gene mutation will not generally show any symptoms, but have a 25% chance of passing the copies of the gene mutations onto each of their children.
What are the main symptoms of Biotinidase Deficiency?
Symptoms may vary depending on the type of the syndrome which develops. There are two types: partial and profound. The profound type triggers more serious symptoms.
Common features of the syndrome include ataxia, which causes problems with movement and mobility. Weak muscle tone is also a feature of the condition.
Developmental delay, breathing issues, hearing and vision loss as well as developmental delay may affect individuals with the syndrome.
Other physical features include skin rashes, hair loss and candida, fungal infections.
How does someone get tested for Biotinidase Deficiency?
The initial testing for Biotinidase Deficiency can begin with facial analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the need for further testing. A consultation with a genetic counselor and then a geneticist will follow.
Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.
What is FDNA Telehealth?
FDNA Telehealth is a leading digital health company that provides faster access to accurate genetic analysis.
With a hospital technology recommended by leading geneticists, our unique platform connects patients with genetic experts to answer their most pressing questions and clarify any concerns they may have about their symptoms.
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Our platform is currently used by over 70% of geneticists and has been used to diagnose over 250,000 patients worldwide.
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Our seamless process begins with an initial online diagnosis by a genetic counselor and follows by consultations with geneticists and genetic testing.
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