Living with Sulfite oxidase deficiency
An inherited nervous system condition with a severe form starting in newborns and a milder form starting later.
Understanding Sulfite oxidase deficiency
The classic form appears within days of birth, with brain dysfunction that quickly gets worse. Babies have seizures that are hard to treat, feeding trouble, and muscle stiffness. The head grows slowly, and facial features change over time. The late-onset form begins later in infancy or early childhood. Many people later develop displaced lenses in the eyes.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Seizures that are hard to treat
- Feeding difficulties
- Muscle stiffness and spasms
- Small head size (microcephaly)
- Delayed development and absent speech
- Vision problems from brain changes
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.
- 3Consider genetic testing
Changes in SUOX are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 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
Changes in the SUOX gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: isod; isolated sulfite oxidase deficiency; sulfite oxidase deficiency, isolated; sulfocysteinuria
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 Sulfite oxidase deficiency.
Explore research for Sulfite oxidase deficiency
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