Overview
Disorder of vitamin and non-protein cofactor absorption and transport is a broad group of rare conditions in which the body has trouble taking in (absorbing) or moving (transporting) vitamins and important helper molecules called cofactors. These substances are essential for many chemical reactions in the body, including energy production, brain function, blood cell formation, and bone health. When the body cannot properly absorb or transport these nutrients, it can lead to deficiencies even when a person eats a normal, balanced diet. This group includes conditions affecting various vitamins such as vitamin B12 (cobalamin), folate, fat-soluble vitamins (A, D, E, K), biotin, thiamine, and other cofactors. Symptoms depend on which vitamin or cofactor is affected and can range from anemia and fatigue to neurological problems, growth delays, bone abnormalities, and immune system dysfunction. Some forms present in infancy or early childhood, while others may not become apparent until later in life. Treatment typically involves replacing the missing vitamin or cofactor, often through high-dose oral supplements or injections that bypass the absorption problem. Early diagnosis and consistent treatment can significantly improve outcomes. Because this is a group of disorders rather than a single disease, the specific diagnosis, treatment approach, and prognosis vary depending on the exact condition involved.
Key symptoms:
Unexplained anemia (low red blood cells)Fatigue and weaknessFailure to thrive or poor growth in childrenNumbness or tingling in hands and feetDifficulty walking or balance problemsDevelopmental delays in childrenFrequent infectionsEasy bruising or bleedingBone pain or softening (rickets or osteomalacia)Vision problemsSkin rashes or hair lossSeizuresMouth soresDiarrhea or digestive problemsCognitive difficulties or confusion
Variable
Can be inherited in different ways depending on the underlying gene
Variable
Can begin at different ages, from infancy through adulthood
FDA & Trial Timeline
1 eventKcentra: FDA approved
Urgent reversal of acquired coagulation factor deficiency induced by vitamin K antagonist (VKA, e.g., warfarin) therapy in adult patients with acute major bleeding or need for an urgent surgery/invasive procedure.
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Disorder of vitamin and non-protein cofactor absorption and transport.
View clinical trials →Clinical Trials
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Specialists
View all specialists →No specialists are currently listed for Disorder of vitamin and non-protein cofactor absorption and transport.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Financial Resources
1 resourcesKcentra
CSL Behring
Travel Grants
No travel grants are currently matched to Disorder of vitamin and non-protein cofactor absorption and transport.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.Which specific vitamin or cofactor is my body unable to absorb or transport properly?,What genetic test confirmed my diagnosis, and should my family members be tested?,What is the best form of supplementation for my condition — oral, injection, or another route?,How often do I need blood tests to monitor my vitamin levels and overall health?,Are there any irreversible complications I should watch for, and how can we prevent them?,Will I need treatment for the rest of my life, and what happens if I miss doses?,Are there any clinical trials or new treatments being studied for my specific condition?
Common questions about Disorder of vitamin and non-protein cofactor absorption and transport
What is Disorder of vitamin and non-protein cofactor absorption and transport?
Disorder of vitamin and non-protein cofactor absorption and transport is a broad group of rare conditions in which the body has trouble taking in (absorbing) or moving (transporting) vitamins and important helper molecules called cofactors. These substances are essential for many chemical reactions in the body, including energy production, brain function, blood cell formation, and bone health. When the body cannot properly absorb or transport these nutrients, it can lead to deficiencies even when a person eats a normal, balanced diet. This group includes conditions affecting various vitamins
What treatment and support options exist for Disorder of vitamin and non-protein cofactor absorption and transport?
1 patient support program are currently tracked on UniteRare for Disorder of vitamin and non-protein cofactor absorption and transport. See the treatments and support programs sections for copay assistance, eligibility, and contact details.