Overview
Constitutional megaloblastic anemia with severe neurologic disease is an extremely rare inherited condition that affects both the blood and the nervous system. In this disease, the body has trouble properly using folate (a B vitamin), which is essential for making healthy red blood cells and for normal brain and nerve development. The term "megaloblastic anemia" means that the bone marrow produces abnormally large, immature red blood cells that do not work properly, leading to low red blood cell counts (anemia). This causes fatigue, weakness, and pale skin. What makes this condition particularly serious is the severe neurologic involvement. Affected individuals may experience seizures, intellectual disability, difficulty with movement and coordination, and other brain-related problems that can begin early in life. The neurologic symptoms can be progressive, meaning they may worsen over time if not addressed. This condition is related to defects in how the body transports or metabolizes folate within cells. Treatment typically involves folate supplementation, though the neurologic damage may not be fully reversible. Early diagnosis and treatment are critical to achieving the best possible outcomes. Because this disease is so rare, management often requires a team of specialists including hematologists, neurologists, and geneticists working together to provide comprehensive care.
Also known as:
Key symptoms:
Severe anemia (low red blood cell count)Pale skinFatigue and weaknessSeizuresIntellectual disabilityDelayed development or developmental regressionDifficulty with movement and coordinationPoor muscle tone or stiffnessDifficulty feeding in infancyFailure to thrive or poor growthAbnormally large red blood cells on blood testsSpeech and language delaysIrritability
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Infantile
Begins in infancy, roughly 1 month to 2 years old
Treatments
No FDA-approved treatments are currently listed for Constitutional megaloblastic anemia with severe neurologic disease.
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Specialists
View all specialists →No specialists are currently listed for Constitutional megaloblastic anemia with severe neurologic disease.
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 Constitutional megaloblastic anemia with severe neurologic disease.
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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.What specific genetic mutation is causing my child's condition, and does it affect treatment choices?,What is the best form and dose of folate supplementation for my child?,How will you monitor whether the treatment is working for both the anemia and the brain symptoms?,What seizure medications are safest and most effective for this condition?,What developmental therapies should we start, and how often?,Are there any clinical trials or experimental treatments available for this disease?,What is the long-term outlook for my child's development and independence?
Common questions about Constitutional megaloblastic anemia with severe neurologic disease
What is Constitutional megaloblastic anemia with severe neurologic disease?
Constitutional megaloblastic anemia with severe neurologic disease is an extremely rare inherited condition that affects both the blood and the nervous system. In this disease, the body has trouble properly using folate (a B vitamin), which is essential for making healthy red blood cells and for normal brain and nerve development. The term "megaloblastic anemia" means that the bone marrow produces abnormally large, immature red blood cells that do not work properly, leading to low red blood cell counts (anemia). This causes fatigue, weakness, and pale skin. What makes this condition particula
How is Constitutional megaloblastic anemia with severe neurologic disease inherited?
Constitutional megaloblastic anemia with severe neurologic disease follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Constitutional megaloblastic anemia with severe neurologic disease typically begin?
Typical onset of Constitutional megaloblastic anemia with severe neurologic disease is infantile. Age of onset can vary across affected individuals.