Living with Multiple carboxylase deficiency
An inherited condition in which enzymes that depend on biotin (a vitamin) do not work well, with a newborn and a later-onset form.
Understanding Multiple carboxylase deficiency
The neonatal form is due to holocarboxylase synthetase deficiency. The late-onset form is due to biotinidase deficiency. Signs begin in the newborn period or infancy.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet.
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 genetic specialists and skin, hair, and nail specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Genetic specialists (geneticists); Skin, hair, and nail specialists (dermatologists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 genes (also called variants) cause this condition. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent. The neonatal form is due to holocarboxylase synthetase deficiency and the late-onset form to biotinidase deficiency.
Also known as: biotin-responsive multiple carboxylase deficiencies; mcd
Patient organizations
- Organic Acidemia AssociationMultiple carboxylase deficiency · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Multiple carboxylase deficiency.
Explore research for Multiple carboxylase deficiency
Explore actively recruiting Multiple carboxylase deficiency studies with HealthSpark.
Find actively recruiting studies for Multiple carboxylase deficiency with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Multiple carboxylase deficiency studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Multiple carboxylase deficiency
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Multiple carboxylase deficiency experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.