Overview
Disorder of pyridoxine metabolism (also called vitamin B6 metabolism disorder) is a rare inherited condition where the body cannot properly process or use vitamin B6, also known as pyridoxine. Vitamin B6 is essential for many chemical reactions in the body, especially in the brain and nervous system. When this vitamin cannot be used correctly, important brain chemicals called neurotransmitters cannot be made in the right amounts, leading to serious problems with brain function. The most well-known condition in this group is pyridoxine-dependent epilepsy (PDE), caused by a fault in the ALDH7A1 gene. This leads to seizures that do not respond to standard anti-seizure medicines but often improve dramatically with high doses of vitamin B6. Other related conditions include pyridox(am)ine 5'-phosphate oxidase (PNPO) deficiency, where the body cannot convert vitamin B6 into its active form. Key symptoms include seizures that begin very early in life, often in newborns, along with developmental delays, intellectual disability, and movement problems. Some children may also have low muscle tone, irritability, and feeding difficulties. Treatment with high-dose pyridoxine or its active form (pyridoxal 5'-phosphate) can control seizures in many patients, but early diagnosis is critical to protect brain development. Lifelong treatment is usually required.
Key symptoms:
Seizures that start in the newborn period or early infancySeizures that do not respond to standard anti-seizure medicationsDevelopmental delays (slower to reach milestones like sitting, walking, talking)Intellectual disabilityLow muscle tone (floppy baby)Irritability and excessive crying in infantsFeeding difficulties in newbornsMovement problems or abnormal movementsAbnormal eye movementsIn some cases, abnormal brain structure seen on MRI scans
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
FDA & Trial Timeline
1 eventMedice Arzneimittel Pütter GmbH & Co KG — PHASE4
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Disorder of pyridoxine metabolism.
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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 pyridoxine metabolism.
Community
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Start the conversation →Latest news about Disorder of pyridoxine metabolism
Disease timeline:
New recruiting trial: A Study to See if a Combination of Vitamins That is Injected Into a Muscle is as Good and Safe as a Vitamin That is Taken by Mouth
A new clinical trial is recruiting patients for Disorder of pyridoxine metabolism
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 gene is causing my child's condition, and what does that mean for treatment?,Should my child be on pyridoxine or pyridoxal 5'-phosphate, and how do we know which form is best?,Does my child need a low-lysine diet, and how do we get support from a dietitian?,How often should we check vitamin B6 levels, and what signs of toxicity should I watch for?,What developmental therapies (speech, occupational, physical) should my child start, and how soon?,Should other family members be tested for this condition?,What is the long-term outlook for my child's development and quality of life?
Common questions about Disorder of pyridoxine metabolism
What is Disorder of pyridoxine metabolism?
Disorder of pyridoxine metabolism (also called vitamin B6 metabolism disorder) is a rare inherited condition where the body cannot properly process or use vitamin B6, also known as pyridoxine. Vitamin B6 is essential for many chemical reactions in the body, especially in the brain and nervous system. When this vitamin cannot be used correctly, important brain chemicals called neurotransmitters cannot be made in the right amounts, leading to serious problems with brain function. The most well-known condition in this group is pyridoxine-dependent epilepsy (PDE), caused by a fault in the ALDH7A1
How is Disorder of pyridoxine metabolism inherited?
Disorder of pyridoxine metabolism follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Disorder of pyridoxine metabolism typically begin?
Typical onset of Disorder of pyridoxine metabolism is neonatal. Age of onset can vary across affected individuals.
Which specialists treat Disorder of pyridoxine metabolism?
5 specialists and care centers treating Disorder of pyridoxine metabolism are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.