Living with Combined molybdoflavoprotein enzyme deficiency
A rare genetic condition (molybdenum cofactor deficiency) with brain problems that worsen, feeding trouble and seizures in infancy.
Understanding Combined molybdoflavoprotein enzyme deficiency
Babies seem typical at birth but within a week have trouble feeding and seizures that do not improve with treatment. Brain tissue shrinks, leading to severe developmental delay. Some have a small head, coarse facial features or a strong startle reaction. Urine and blood tests show specific chemical changes.
Signs & symptoms
GARD doesn't list a separate symptom list for this condition, but the summary describes these features:
- Feeding difficulty within the first week
- Seizures that do not improve with treatment
- Severe developmental delay
- Strong startle reaction (hyperekplexia)
- Small head size (microcephaly)
- Coarse facial features
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, eye disease specialists, genetic specialists and seizure and epilepsy specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
Epilepsy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists); Seizure and epilepsy specialists (epileptologist)
- Expert care
- Expert lists: Epilepsy Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Epilepsy Foundation
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says changes in genes cause this condition. It doesn't list a specific gene or inheritance pattern.
Also known as: combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase; combined deficiency of sulfite oxidase, xanthine dehydrogenase, and aldehyde oxidase; combined xanthine oxidase and aldehyde oxidase deficiency; combined xanthine oxidase and sulfite oxidase and aldehyde oxidase deficiency; deficiency of molybdenum cofactor; hereditary xanthinuria type 2
Patient organizations
- Epilepsy FoundationEpilepsy · United States
Broader rare-disease groups
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Combined molybdoflavoprotein enzyme deficiency.
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