Partial biotinidase deficiency is a milder form of this condition. Affected children may experience hypotonia, skin rashes, and hair loss, but these problems may appear only during illness, infection, or other times of stress on the body.
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
|Medical Terms||Other Names||
|80%-99% of people have these symptoms|
|Generalized myoclonic seizure||0002123|
Low or weak muscle tone
|30%-79% of people have these symptoms|
|Desquamation of skin soon after birth||0007549|
Hearing defect[ more ]
Eczema around the mouth
|5%-29% of people have these symptoms|
|Abnormal cerebellum morphology||
Abnormality of the cerebellum
Cerebellar anomaly[ more ]
Retarded growth[ more ]
Light eye color
Nearsightedness[ more ]
|Recurrent fungal infections||0002841|
|Visual field defect||
Partial loss of field of vision
|Percent of people who have these symptoms is not available through HPO|
|Decreased biotinidase level||0410145|
|Diffuse cerebellar atrophy||0100275|
|Diffuse cerebral atrophy||0002506|
|Feeding difficulties in infancy||0008872|
Decreased muscle tone
Low muscle tone[ more ]
High blood ammonia levels
|Recurrent skin infections||
Skin infections, recurrent
|Sensorineural hearing impairment||0000407|
Increased spleen size
Increased respiratory rate or depth of breathing
Loss of vision
Vision loss[ more ]
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.
If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.
You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
The symptoms of BTD deficiency overlap with those of other metabolic diseases, including holocarboxylase synthetase deficiency (see this term), isolated carboxylase deficiency, nutritional biotin deficiency, zinc deficiency and essential fatty acid deficiency.
Visit the Orphanet disease page for more information.
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question
I am 28 weeks pregnant. I have biotinidase deficiency. I was wondering if the treatment I have to take (biotin) could cause my baby to have a cleft lip or palate or any other birth defect. I am worried because I was notified that on my ultrasound, it looks like my baby is missing part of the lip. See answer