Maternal riboflavin deficiency

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ORPHA:411712OMIM:615026P00.4
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Overview

Maternal riboflavin deficiency refers to a condition where a pregnant mother does not have enough riboflavin (vitamin B2) in her body, which can cause health problems in her developing baby. Riboflavin is an essential B vitamin that plays a key role in energy production, cell growth, and the proper development of a baby during pregnancy. When a mother lacks sufficient riboflavin, the baby may be born with birth defects or other complications that fall under the broader category of conditions caused by maternal nutritional deficiencies. The effects on the baby can vary widely depending on how severe the deficiency is and when during pregnancy it occurs. Possible problems include growth restriction, heart defects, limb abnormalities, and other structural birth defects. Some babies may also experience low birth weight or be born prematurely. The condition is classified under ICD-10 code P00.4, which covers newborns affected by maternal nutritional disorders. The good news is that this condition is largely preventable. Ensuring adequate riboflavin intake before and during pregnancy through a balanced diet or vitamin supplements is the primary approach. Foods rich in riboflavin include milk, eggs, lean meats, green vegetables, and fortified cereals. When a baby is born affected by maternal riboflavin deficiency, treatment focuses on managing the specific complications present and providing nutritional support to both mother and baby.

Key symptoms:

Low birth weightPremature birthPoor growth before birth (intrauterine growth restriction)Heart defects present at birthLimb abnormalitiesCleft lip or cleft palateSkeletal abnormalitiesFeeding difficulties in the newbornAnemia in the newbornSkin problems in the newbornDevelopmental delays

Inheritance

Sporadic

Usually appears on its own, not inherited from a parent

Age of Onset

Neonatal

Begins at or shortly after birth (first 4 weeks)

Orphanet ↗OMIM ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Maternal riboflavin deficiency.

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No actively recruiting trials found for Maternal riboflavin deficiency at this time.

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No specialists are currently listed for Maternal riboflavin deficiency.

View NORD Rare Disease Centers ↗Undiagnosed Disease Network ↗

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to Maternal riboflavin deficiency.

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Community

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Latest news about Maternal riboflavin deficiency

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Caregiver Resources

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Questions for your doctor

Bring these to your next appointment

  • Q1.How severe was the riboflavin deficiency, and what specific effects has it had on my baby?,Does my baby need any surgeries or special treatments for birth defects?,What supplements should I take now, especially if I am breastfeeding?,Will my baby's growth and development catch up over time?,How can I prevent this from happening in a future pregnancy?,Should my baby be tested for any genetic conditions that could look similar?,What specialists does my baby need to see, and how often?

Common questions about Maternal riboflavin deficiency

What is Maternal riboflavin deficiency?

Maternal riboflavin deficiency refers to a condition where a pregnant mother does not have enough riboflavin (vitamin B2) in her body, which can cause health problems in her developing baby. Riboflavin is an essential B vitamin that plays a key role in energy production, cell growth, and the proper development of a baby during pregnancy. When a mother lacks sufficient riboflavin, the baby may be born with birth defects or other complications that fall under the broader category of conditions caused by maternal nutritional deficiencies. The effects on the baby can vary widely depending on how

How is Maternal riboflavin deficiency inherited?

Maternal riboflavin deficiency follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Maternal riboflavin deficiency typically begin?

Typical onset of Maternal riboflavin deficiency is neonatal. Age of onset can vary across affected individuals.