Overview
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C (also called MoCD type C or MOCOD type C) is an extremely rare inherited metabolic disorder. It is caused by problems in the GPHN gene, which is needed to make a substance called molybdenum cofactor. This cofactor is essential for several enzymes in the body to work properly, including sulfite oxidase. When sulfite oxidase cannot function, toxic sulfite builds up in the body, especially in the brain, causing severe damage. Babies with this condition typically appear normal at birth but quickly develop serious neurological problems within the first days to weeks of life. These include seizures that are very difficult to control, feeding difficulties, and abnormal muscle tone. Over time, affected children develop severe intellectual disability, lens dislocation in the eyes, and progressive brain damage that can be seen on brain imaging as loss of brain tissue. The treatment landscape for MoCD type C is currently very limited. Unlike MoCD type A, for which a specific replacement therapy (cyclic pyranopterin monophosphate, known as fosdenopterin or Nulibry) has been developed, there is no equivalent targeted treatment for type C. Management is mainly supportive, focusing on controlling seizures, providing nutritional support, and managing complications. Research is ongoing, but the prognosis remains very poor for most affected individuals.
Also known as:
Key symptoms:
Severe seizures starting in the first days of lifeFeeding difficultiesAbnormal muscle tone (either too stiff or too floppy)Severe intellectual disabilityLens dislocation in the eyesProgressive brain damageFailure to reach developmental milestonesInvoluntary muscle movementsMicrocephaly (small head size)Poor growth and failure to thriveBreathing difficultiesLoss of previously acquired skills
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 eventNulibry: FDA approved
to reduce the risk of mortality in patients with molybdenum cofactor deficiency (MoCD) Type A
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
1 availableNulibry
to reduce the risk of mortality in patients with molybdenum cofactor deficiency (MoCD) Type A
Clinical Trials
View all trials with filters →No actively recruiting trials found for Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C.
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 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C.
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.How can we confirm whether this is type A, B, or C of molybdenum cofactor deficiency, and does the subtype affect treatment options?,What seizure medications are most likely to help, and what should we do if a seizure lasts too long?,Are there any clinical trials or experimental treatments available for MoCD type C?,What feeding and nutritional support does my child need, and should we consider a feeding tube?,How often should my child have brain imaging and eye exams?,What palliative care and supportive services are available to help our family?,Is genetic counseling available for our family to understand the risk for future pregnancies?
Common questions about Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
What is Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C?
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C (also called MoCD type C or MOCOD type C) is an extremely rare inherited metabolic disorder. It is caused by problems in the GPHN gene, which is needed to make a substance called molybdenum cofactor. This cofactor is essential for several enzymes in the body to work properly, including sulfite oxidase. When sulfite oxidase cannot function, toxic sulfite builds up in the body, especially in the brain, causing severe damage. Babies with this condition typically appear normal at birth but quickly develop serious neurological
How is Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C inherited?
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C typically begin?
Typical onset of Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C is neonatal. Age of onset can vary across affected individuals.
What treatment and support options exist for Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C?
1 patient support program are currently tracked on UniteRare for Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C. See the treatments and support programs sections for copay assistance, eligibility, and contact details.