Living with Biotinidase deficiency
An inherited condition in which the body can't recycle the vitamin biotin; treatment can prevent or improve problems.
Understanding Biotinidase deficiency
Without treatment, signs usually appear in the first few months of life, though sometimes later in childhood. The profound form can cause seizures, low muscle tone, hearing and vision loss, skin rashes, hair loss, and developmental delay. Partial deficiency is milder. Lifelong treatment can prevent these problems or improve them.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Seizures
- Low muscle tone (hypotonia)
- Hearing loss (sensorineural)
- Skin rash
- Problems with the nervous system or immune system
- Changes seen on a brain scan
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists and genetic specialists.
- 3Consider genetic testing
Changes in BTD are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
The Foundation for Peripheral Neuropathy may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: The Foundation for Peripheral Neuropathy
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Organic Acidemia Association and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the BTD gene cause this condition. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent.
Also known as: biotin deficiency; btd deficiency; deficiency of biotinidase; juvenile-onset multiple carboxylase deficiency; late-onset biotin-responsive multiple carboxylase deficiency; late-onset multiple carboxylase deficiency
Patient organizations
- Organic Acidemia AssociationBiotinidase deficiency · United States
- The Foundation for Peripheral NeuropathyPeripheral neuropathy · United States
- Neuropathy Action FoundationPeripheral neuropathy · United States
You are more than your diagnosis
Perspectives from people navigating life with Biotinidase deficiency.
Explore research for Biotinidase deficiency
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