Overview
Disorder of folate metabolism and transport is a group of rare inherited conditions that affect how the body handles folate (also known as vitamin B9). Folate is a vital nutrient needed for many important processes in the body, including making DNA, producing red blood cells, and supporting brain development and function. When the body cannot properly absorb, transport, or use folate, it can lead to serious health problems. These disorders can show up in different ways depending on which part of the folate pathway is affected. Common problems include megaloblastic anemia (a type of anemia where red blood cells are abnormally large), neurological issues such as seizures, developmental delays, intellectual disability, and movement problems. Some patients may also experience immune system weakness, making them more prone to infections. The severity of symptoms varies widely. Some forms present in infancy with severe neurological decline, while others may appear later with milder symptoms. Treatment typically involves giving folate in specific forms (such as folinic acid or 5-methyltetrahydrofolate) that can bypass the metabolic block. Early diagnosis and treatment are critical because delays can lead to permanent brain damage. The treatment landscape has improved with better understanding of the specific genetic causes, allowing more targeted therapy. However, outcomes still depend heavily on how early treatment begins and which specific gene is affected.
Key symptoms:
Megaloblastic anemia (large, abnormal red blood cells causing fatigue and weakness)SeizuresDevelopmental delayIntellectual disabilityDifficulty walking or poor coordinationFailure to thrive in infantsRecurrent infections due to weakened immune systemLow blood cell counts (pancytopenia)Chronic diarrheaMouth soresIrritability or behavioral changesDifficulty speakingInvoluntary movements (tremors or jerky movements)Progressive loss of previously learned skills
Variable
Can be inherited in different ways depending on the underlying gene
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Disorder of folate metabolism and transport.
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Specialists
View all specialists →No specialists are currently listed for Disorder of folate metabolism 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
Travel Grants
No travel grants are currently matched to Disorder of folate metabolism and transport.
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
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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 type of folate disorder does my child have, and which gene is affected?,What form and dose of folate supplement is best for this specific condition?,How often do we need blood tests or spinal fluid tests to monitor treatment?,What developmental or neurological outcomes should we expect with treatment?,Are there any medications or foods we should avoid that could interfere with folate metabolism?,Should other family members be tested for this condition?,Are there any clinical trials or new treatments being studied for this disorder?
Common questions about Disorder of folate metabolism and transport
What is Disorder of folate metabolism and transport?
Disorder of folate metabolism and transport is a group of rare inherited conditions that affect how the body handles folate (also known as vitamin B9). Folate is a vital nutrient needed for many important processes in the body, including making DNA, producing red blood cells, and supporting brain development and function. When the body cannot properly absorb, transport, or use folate, it can lead to serious health problems. These disorders can show up in different ways depending on which part of the folate pathway is affected. Common problems include megaloblastic anemia (a type of anemia whe